Isolated Pierre Robin Syndrome

Developmental MONDO:0009869 Pathograph 9 Show in embeddings browser Congenital craniofacial disorder

Isolated Pierre Robin sequence is a congenital craniofacial disorder in which mandibular hypoplasia, glossoptosis, and upper airway obstruction occur without a recognized broader syndrome. Cleft palate and feeding difficulties may accompany the sequence. Pathogenic noncoding variants affecting SOX9 regulation account for a subset of cases. Deletions of distal craniofacial enhancers can reduce SOX9 expression during neural crest development while sparing its coding sequence; this mechanism is distinct from the widespread skeletal and sex-development abnormalities associated with SOX9 coding variants in campomelic dysplasia. Other isolated cases have unresolved or different etiologies.

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3
Pathophys.
5
Phenotypes
9
Pathograph
1
Genes
1
Variants
2
Medical Actions
1
Subtypes
1
Models
1
Deep Research
◆

Subtypes

1
SOX9 regulatory
SOX9 hgnc:11204 HUGO Gene Nomenclature Committee (hgnc) Relation: this subtype is caused by variation in this gene This subtype is caused by variation in SOX9 (hgnc:11204). hgnc:11204 is a gene from the HUGO Gene Nomenclature Committee. Autosomal dominant inheritance
Isolated Robin sequence associated with disruption of noncoding regulatory DNA controlling SOX9. Distal enhancer deletions and rearrangements can perturb craniofacial expression without deleting SOX9 coding sequence. This etiologic subtype does not encompass all isolated Robin sequence.
Show evidence (1 reference)
PMID:19234473 SUPPORT Human Clinical
"Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements."
Establishes that SOX9 regulatory disruption explains a subset of Robin sequence.
⚙

Pathophysiology

3
Deletion of Distal SOX9 Craniofacial Enhancers
Disease-associated deletions remove parts of the distant SOX9 craniofacial regulatory landscape. The F1 deletion overlaps enhancer cluster EC1.45, approximately 1.45 Mb upstream of SOX9. The deletion eliminates enhancer DNA rather than altering the SOX9 protein sequence.
Genetic context Variant type: deletion Genomic context: intergenic region variant_origin: GERMLINE zygosity: HETEROZYGOUS
Affected regions (reference genome)
Distal SOX9 craniofacial regulatory landscape
Noncoding gene-desert sequence upstream of SOX9 containing distinct craniofacial enhancer clusters. Patient deletions affect different parts of this landscape; the family F1 deletion overlaps EC1.45.
Deletion in the gene desert upstream of SOX9, with intact SOX9 coding sequence. The family F1 allele was initially estimated at 75 kb and subsequently resolved as an 84 kb deletion with a 9 bp junction insertion. Other families have different upstream deletions.
Downstream
Modular Loss of SOX9 Expression in Cranial Neural Crest Loss of craniofacial enhancer DNA can reduce expression of the intact SOX9 allele during neural crest development.
Show evidence (1 reference)
PMID:24934569 SUPPORT Human Clinical
"This analysis indicated a deletion of 84 kb (chr17:68,663,923-68,748,011 inclusive; Hg19), accompanied by an insertion of 9 bp"
Breakpoint-spanning sequencing refined the family F1 deletion and identified the small junction insertion.
Modular Loss of SOX9 Expression in Cranial Neural Crest
Regulatory category: mLOE (Provisional)
Loss of distal enhancer activity is proposed to reduce SOX9 expression during a restricted cranial neural crest developmental window in affected individuals. In engineered hESC-derived cells, heterozygous EC1.45 deletion reduced expression from the edited allele by 50-55% in late cranial neural crest cells; EC1.25 deletion had a smaller effect. Neither deletion produced allelic expression skew after differentiation into cranial chondrocytes. These paired contexts support modular loss of expression in the experimental system. The provisional confidence records extrapolation to the larger patient F1 deletion, whose embryonic expression effect was not directly measured.
cranial neural crest cell CL:0000333 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves cranial neural crest cell, annotated with migratory neural crest cell (CL:0000333). CL:0000333 is a cell type from the Cell Ontology.
SOX9 hgnc:11204 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves SOX9 (hgnc:11204). hgnc:11204 is a gene from the HUGO Gene Nomenclature Committee.
SOX9 gene expression during cranial neural crest development GO:0010467 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased SOX9 gene expression during cranial neural crest development, annotated with gene expression (GO:0010467). GO:0010467 is a biological process from the Gene Ontology. ↓ DECREASED
Experimental models
Engineered SOX9 enhancer deletions in hESC-derived cranial neural crest cells OTHER
Downstream
Impaired Mandibular Outgrowth Reduced SOX9 dosage in neural crest progenitors can impair mandibular morphogenesis. The intermediate cellular defects connecting the patient enhancer deletion to jaw undergrowth remain incompletely resolved.
Show evidence (2 references)
PMID:32991838 SUPPORT INDIRECT In Vitro
"The effect of EC1.45 enhancer deletion on SOX9 expression was larger than that of EC1.25 deletion, especially in passage 3 (P3)–P4 late hCNCCs, where it led to 50%–55% lower expression of the mutated allele."
Quantifies the allele-specific reduction after engineered EC1.45 deletion in late hCNCCs, rather than in patient material.
PMID:32991838 SUPPORT INDIRECT In Vitro
"cranial chondrocytes derived from hCNCCs heterozygous for EC1.45 or EC1.25 enhancer deletions did not show allelic skew in SOX9 expression"
Retained balanced expression in derived chondrocytes supports developmental restriction of the enhancer requirement.
Impaired Mandibular Outgrowth
Underdevelopment of the mandible is the principal structural abnormality in Robin sequence. Reduced jaw dimensions can alter tongue position and airway geometry. This anatomical step can occur through etiologies other than SOX9 enhancer disruption.
Embryonic mandibular morphogenesis GO:0048704 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased Embryonic mandibular morphogenesis, annotated with embryonic skeletal system morphogenesis (GO:0048704). GO:0048704 is a biological process from the Gene Ontology. ↓ DECREASED
Downstream
Micrognathia
Glossoptosis Mandibular hypoplasia is thought to initiate posterior tongue displacement in the classical Robin sequence model.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
The clinical study defined both isolated and non-isolated Robin sequence using mandibular hypoplasia, glossoptosis, and objectively assessed obstruction.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Isolated Pierre Robin Syndrome Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

5
Digestive 1
Feeding Difficulties HP:0011968 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Feeding difficulties (HP:0011968). HP:0011968 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"Eight out of 9 patients who had persisting FD at the age of 1 year, presented with non-isolated RS."
Persistent feeding difficulty also occurred in an isolated case; this mixed cohort does not establish an isolated-case frequency.
Head and Neck 3
Micrognathia HP:0000347 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Micrognathia (HP:0000347). HP:0000347 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
Mandibular hypoplasia was a clinical inclusion criterion for the cohort, including its isolated cases.
Glossoptosis HP:0000162 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Glossoptosis (HP:0000162). HP:0000162 is a phenotype from the Human Phenotype Ontology.
Sequelae: Upper Airway Obstruction
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
Glossoptosis was clinically documented as part of the cohort definition.
Cleft Palate HP:0000175 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Cleft palate (HP:0000175). HP:0000175 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"Thirty (83%) patients presented with a cleft palate"
Cleft palate occurred in only part of a mixed isolated and non-isolated cohort; its pooled frequency is not assigned to the isolated subtype.
Respiratory 1
Upper Airway Obstruction HP:0002781 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Upper airway obstruction (HP:0002781). HP:0002781 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
Objective airway obstruction was documented in the clinical cohort, which included isolated Robin sequence.
🧬

Genetic Associations

1
SOX9 (Regulatory target of pathogenic noncoding deletions in a subset of isolated Robin sequence)
Gene: SOX9 hgnc:11204 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is SOX9 (hgnc:11204). hgnc:11204 is a gene from the HUGO Gene Nomenclature Committee.
Variants (1)
Distal SOX9 enhancer deletion in family F1 (Benko 2009; refined Gordon 2014)
Regulatory target: SOX9 hgnc:11204 HUGO Gene Nomenclature Committee (hgnc) Relation: this variant has a reported or proposed regulatory effect on this gene This variant has a reported or proposed regulatory effect on SOX9 (hgnc:11204). hgnc:11204 is a gene from the HUGO Gene Nomenclature Committee. deletion
Variant detail: Deletion with a 9 bp junction insertion
Genomic context: intergenic region
Affected regions (reference genome)
EC1.45 craniofacial enhancer cluster enhancer
Enhancer cluster approximately 1.45 Mb upstream of SOX9 within the intervening gene desert. This feature overlaps the family F1 deletion and does not describe its complete extent. EC1.25 is a separate experimentally studied cluster, not part of the F1 deletion.
The historical approximately 75 kb F1 deletion was resolved by breakpoint-spanning sequencing as hg19 chr17:68,663,923-68,748,011 inclusive, approximately 84 kb, accompanied by a 9 bp insertion. It overlaps EC1.45 in the SOX9 upstream gene desert and leaves SOX9 coding sequence intact. POSTRE Table 1 patient Nr2 uses the earlier 75 kb representation chr17:68,663,405-68,738,405 (hg19), citing Long 2020, whose Figure 1 identifies the original F1 deletion. The POSTRE input interval is retained as benchmark provenance and is not treated as identical nucleotide-resolved boundaries or as a second allele.
Functional effects
SOX9 expression during cranial neural crest development Reduced gene expression ENHANCER
The F1 deletion overlaps a cranial neural crest enhancer cluster. Engineered EC1.45 deletion, which is smaller than the patient deletion, reduces SOX9 expression in hESC-derived cranial neural crest cells but not in derived chondrocytes. Modular loss of expression is therefore a supported model for the patient's regulatory defect rather than a direct patient expression measurement.
Mechanism: Deletion of distal craniofacial enhancer DNA
Show evidence (2 references)
PMID:24934569 SUPPORT Human Clinical
"This analysis indicated a deletion of 84 kb (chr17:68,663,923-68,748,011 inclusive; Hg19), accompanied by an insertion of 9 bp"
Defines the refined patient deletion and its junction insertion.
PMID:32991838 SUPPORT INDIRECT In Vitro
"In summary, EC1.45 and EC1.25 are required for normal expression of SOX9 in the cranial neural crest"
Functional perturbation of enhancer clusters supports SOX9 as the regulatory target without claiming an assay of the complete F1 allele.
💊

Medical Actions

2
Individualized airway support
Action: Supportive CareNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Supportive Care (NCIT:C15747). NCIT:C15747 is a clinical intervention from the NCI Thesaurus. NCIT:C15747
Airway management is guided by respiratory severity and sleep studies. A prospective cohort that included isolated Robin sequence used non-surgical support such as nasopharyngeal airways and non-invasive ventilation. This evidence concerns clinical Robin sequence management and is not specific to the SOX9 regulatory subtype.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"Non-surgical respiratory treatment resulted in an improvement of respiratory outcomes to near normal during the first year of life in patients with RS."
Reports clinical outcomes in a cohort including isolated and non-isolated cases.
Feeding assessment and nutritional support
Action: Nutritional SupportNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Nutritional Support (NCIT:C15433). NCIT:C15433 is a clinical intervention from the NCI Thesaurus. NCIT:C15433
Feeding assessment, growth monitoring, and supplemental enteral feeding address inadequate intake when required; persistent feeding difficulty can outlast the period of airway support.
Show evidence (1 reference)
PMID:37728101 SUPPORT Human Clinical
"A total of 31 (86%) patients required tube feeding during their first year of life."
Documents use of tube feeding in the mixed clinical cohort; no subtype-specific treatment effect or frequency is inferred.
🧫

Experimental Models

1
Engineered SOX9 enhancer deletions in hESC-derived cranial neural crest cells OTHER
Heterozygous EC1.45 or EC1.25 deletions were engineered in hESCs. Allele-specific RT-ddPCR during differentiation demonstrated reduced SOX9 expression in cranial neural crest cells with loss of allelic skew after differentiation into chondrocytes. These engineered enhancer-cluster deletions are distinct from the larger clinical deletions, including the F1 allele.
Organism
human NCBITaxon:9606 NCBI Taxonomy (NCBITaxon) Relation: this experimental model is built in this organism This experimental model is built in human, annotated with Homo sapiens (NCBITaxon:9606). NCBITaxon:9606 is an organism from the NCBI Taxonomy.
Cell source
Genome-edited human embryonic stem cells differentiated into cranial neural crest cells and subsequently cranial chondrocytes
Publication
PMID:32991838
Pathograph links
Modular Loss of SOX9 Expression in Cranial Neural Crest recapitulates fidelity: moderate observes: molecular
Limitations: Engineered enhancer-cluster deletions reproduce the expression mechanism but not the full patient F1 deletion or its genetic background.
Show evidence (1 reference)
PMID:32991838 SUPPORT In Vitro
"we generated hESC lines with heterozygous deletions of EC1.45 or EC1.25"
Establishes the provenance of the engineered cellular models.
{ }

Source YAML

click to show 
name: Isolated Pierre Robin Syndrome
creation_date: '2026-09-21T16:55:00Z'
category: Developmental
synonyms:
- Isolated Pierre Robin sequence
- Nonsyndromic Robin sequence
disease_term:
  preferred_term: isolated Pierre-Robin syndrome
  term:
    id: MONDO:0009869
    label: isolated Pierre-Robin syndrome
description: >-
  Isolated Pierre Robin sequence is a congenital craniofacial disorder in
  which mandibular hypoplasia, glossoptosis, and upper airway obstruction
  occur without a recognized broader syndrome. Cleft palate and feeding
  difficulties may accompany the sequence. Pathogenic noncoding variants
  affecting SOX9 regulation account for a subset of cases. Deletions of
  distal craniofacial enhancers can reduce SOX9 expression during neural
  crest development while sparing its coding sequence; this mechanism is
  distinct from the widespread skeletal and sex-development abnormalities
  associated with SOX9 coding variants in campomelic dysplasia. Other
  isolated cases have unresolved or different etiologies.
notes: >-
  This entry covers isolated Robin sequence, not Robin sequence occurring
  within Stickler syndrome, campomelic dysplasia, or another recognized
  syndrome. SOX9-associated regulatory mechanisms are scoped to the SOX9
  regulatory subtype.
parents:
- Congenital craniofacial disorder
has_subtypes:
- name: SOX9 regulatory
  subtype_term:
    preferred_term: SOX9-associated isolated Robin sequence
  description: >-
    Isolated Robin sequence associated with disruption of noncoding
    regulatory DNA controlling SOX9. Distal enhancer deletions and
    rearrangements can perturb craniofacial expression without deleting
    SOX9 coding sequence. This etiologic subtype does not encompass all
    isolated Robin sequence.
  genes:
  - preferred_term: SOX9
    term:
      id: hgnc:11204
      label: SOX9
  inheritance:
  - name: Autosomal dominant
    inheritance_term:
      preferred_term: Autosomal dominant inheritance
      term:
        id: HP:0000006
        label: Autosomal dominant inheritance
    evidence:
    - reference: PMID:23532965
      reference_title: Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: "Clinical chromosome microarray analysis (CMA) revealed a maternally inherited ~623 kb microdeletion"
      explanation: >-
        A daughter with isolated Robin sequence and her mother with cleft
        palate shared an upstream SOX9 deletion, supporting dominant
        transmission with variable expression in this regulatory subtype.
  evidence:
  - reference: PMID:19234473
    reference_title: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements."
    explanation: Establishes that SOX9 regulatory disruption explains a subset of Robin sequence.
pathophysiology:
- name: Deletion of Distal SOX9 Craniofacial Enhancers
  biological_scale: MOLECULAR
  subtypes:
  - SOX9 regulatory
  genetic_context:
    variant_type: deletion
    genomic_contexts:
    - intergenic region
    variant_origin: GERMLINE
    zygosity: HETEROZYGOUS
    affected_regions:
    - name: Distal SOX9 craniofacial regulatory landscape
      description: >-
        Noncoding gene-desert sequence upstream of SOX9 containing distinct
        craniofacial enhancer clusters. Patient deletions affect different
        parts of this landscape; the family F1 deletion overlaps EC1.45.
    description: >-
      Deletion in the gene desert upstream of SOX9, with intact SOX9 coding
      sequence. The family F1 allele was initially estimated at 75 kb and
      subsequently resolved as an 84 kb deletion with a 9 bp junction
      insertion. Other families have different upstream deletions.
  description: >-
    Disease-associated deletions remove parts of the distant SOX9
    craniofacial regulatory landscape. The F1 deletion overlaps enhancer
    cluster EC1.45, approximately 1.45 Mb upstream of SOX9. The deletion
    eliminates enhancer DNA rather than altering the SOX9 protein sequence.
  evidence:
  - reference: PMID:24934569
    reference_title: Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "This analysis indicated a deletion of 84 kb (chr17:68,663,923-68,748,011 inclusive; Hg19), accompanied by an insertion of 9 bp"
    explanation: Breakpoint-spanning sequencing refined the family F1 deletion and identified the small junction insertion.
  downstream:
  - target: Modular Loss of SOX9 Expression in Cranial Neural Crest
    causal_link_type: DIRECT
    description: Loss of craniofacial enhancer DNA can reduce expression of the intact SOX9 allele during neural crest development.
    evidence:
    - reference: PMID:32991838
      reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
      supports: SUPPORT
      directness: INDIRECT
      evidence_source: IN_VITRO
      snippet: "enhancer deletion was associated with a striking allelic skew in SOX9 expression, indicating that loss of EC1.45 or EC1.25 disrupted normal regulation of SOX9"
      explanation: >-
        Engineered heterozygous enhancer-cluster deletions establish the
        causal expression effect in human stem-cell-derived neural crest;
        they do not reproduce the entire patient F1 deletion.
- name: Modular Loss of SOX9 Expression in Cranial Neural Crest
  biological_scale: MOLECULAR
  subtypes:
  - SOX9 regulatory
  mechanism_confidence: PROVISIONAL
  regulatory_category: mLOE
  description: >-
    Loss of distal enhancer activity is proposed to reduce SOX9 expression
    during a restricted cranial neural crest developmental window in
    affected individuals. In engineered hESC-derived cells, heterozygous
    EC1.45 deletion reduced expression from the edited allele by 50-55% in
    late cranial neural crest cells; EC1.25 deletion had a smaller effect.
    Neither deletion produced allelic expression skew after differentiation
    into cranial chondrocytes. These paired contexts support modular loss
    of expression in the experimental system. The provisional confidence
    records extrapolation to the larger patient F1 deletion, whose
    embryonic expression effect was not directly measured.
  genes:
  - preferred_term: SOX9
    term:
      id: hgnc:11204
      label: SOX9
  cell_types:
  - preferred_term: cranial neural crest cell
    term:
      id: CL:0000333
      label: migratory neural crest cell
  biological_processes:
  - preferred_term: SOX9 gene expression during cranial neural crest development
    modifier: DECREASED
    term:
      id: GO:0010467
      label: gene expression
  evidence:
  - reference: PMID:32991838
    reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
    supports: SUPPORT
    directness: INDIRECT
    evidence_source: IN_VITRO
    snippet: "The effect of EC1.45 enhancer deletion on SOX9 expression was larger than that of EC1.25 deletion, especially in passage 3 (P3)–P4 late hCNCCs, where it led to 50%–55% lower expression of the mutated allele."
    explanation: Quantifies the allele-specific reduction after engineered EC1.45 deletion in late hCNCCs, rather than in patient material.
  - reference: PMID:32991838
    reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
    supports: SUPPORT
    directness: INDIRECT
    evidence_source: IN_VITRO
    snippet: "cranial chondrocytes derived from hCNCCs heterozygous for EC1.45 or EC1.25 enhancer deletions did not show allelic skew in SOX9 expression"
    explanation: Retained balanced expression in derived chondrocytes supports developmental restriction of the enhancer requirement.
  downstream:
  - target: Impaired Mandibular Outgrowth
    causal_link_type: INDIRECT_UNKNOWN_INTERMEDIATES
    description: >-
      Reduced SOX9 dosage in neural crest progenitors can impair mandibular
      morphogenesis. The intermediate cellular defects connecting the
      patient enhancer deletion to jaw undergrowth remain incompletely
      resolved.
    evidence:
    - reference: PMID:32991838
      reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
      supports: SUPPORT
      directness: INDIRECT
      evidence_source: MODEL_ORGANISM
      snippet: "the mandible exhibits heightened and fully penetrant sensitivity to a 50% reduction of Sox9 gene dosage during mouse neural crest development"
      explanation: Neural crest-specific Sox9 dosage perturbation in mice supports the developmental link; it is not the exact human deletion.
- name: Impaired Mandibular Outgrowth
  biological_scale: TISSUE
  description: >-
    Underdevelopment of the mandible is the principal structural abnormality
    in Robin sequence. Reduced jaw dimensions can alter tongue position
    and airway geometry. This anatomical step can occur through etiologies
    other than SOX9 enhancer disruption.
  biological_processes:
  - preferred_term: Embryonic mandibular morphogenesis
    modifier: DECREASED
    term:
      id: GO:0048704
      label: embryonic skeletal system morphogenesis
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
    explanation: The clinical study defined both isolated and non-isolated Robin sequence using mandibular hypoplasia, glossoptosis, and objectively assessed obstruction.
  downstream:
  - target: Micrognathia
    causal_link_type: DIRECT
  - target: Glossoptosis
    causal_link_type: DIRECT
    description: Mandibular hypoplasia is thought to initiate posterior tongue displacement in the classical Robin sequence model.
    evidence:
    - reference: PMID:27429161
      reference_title: 'Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.'
      supports: SUPPORT
      quote_role: REVIEW_SYNTHESIS
      evidence_source: OTHER
      snippet: "Micrognathia is hypothesized as the initiating event"
      explanation: The consensus explicitly treats the initiating anatomical sequence as a hypothesis rather than a universal demonstrated mechanism.
phenotypes:
- name: Micrognathia
  category: Craniofacial
  description: Congenital mandibular hypoplasia is a defining feature of Robin sequence.
  phenotype_term:
    preferred_term: Micrognathia
    term:
      id: HP:0000347
      label: Micrognathia
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
    explanation: Mandibular hypoplasia was a clinical inclusion criterion for the cohort, including its isolated cases.
- name: Glossoptosis
  category: Craniofacial
  description: Posterior displacement of the tongue contributes to tongue-base airway obstruction.
  phenotype_term:
    preferred_term: Glossoptosis
    term:
      id: HP:0000162
      label: Glossoptosis
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
    explanation: Glossoptosis was clinically documented as part of the cohort definition.
  sequelae:
  - target: Upper Airway Obstruction
    causal_link_type: DIRECT
    description: A posteriorly positioned tongue can obstruct the upper airway.
- name: Upper Airway Obstruction
  category: Respiratory
  description: >-
    Obstruction may be intermittent and become more apparent during sleep;
    severity varies and is assessed with clinical examination and sleep
    studies.
  phenotype_term:
    preferred_term: Upper airway obstruction
    term:
      id: HP:0002781
      label: Upper airway obstruction
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "clinical mandibular hypoplasia, clinical glossoptosis, and the presence of UAO, objectified by a polysomnography (PSG) and/or pulse oximetry"
    explanation: Objective airway obstruction was documented in the clinical cohort, which included isolated Robin sequence.
- name: Cleft Palate
  category: Craniofacial
  description: Cleft palate may accompany isolated Robin sequence but is not required for the clinical diagnosis.
  phenotype_term:
    preferred_term: Cleft palate
    term:
      id: HP:0000175
      label: Cleft palate
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Thirty (83%) patients presented with a cleft palate"
    explanation: Cleft palate occurred in only part of a mixed isolated and non-isolated cohort; its pooled frequency is not assigned to the isolated subtype.
- name: Feeding Difficulties
  category: Gastrointestinal
  description: >-
    Feeding impairment can require supplemental tube feeding and may
    persist after respiratory improvement. Craniofacial anatomy and
    swallowing function both contribute.
  phenotype_term:
    preferred_term: Feeding difficulties
    term:
      id: HP:0011968
      label: Feeding difficulties
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Eight out of 9 patients who had persisting FD at the age of 1 year, presented with non-isolated RS."
    explanation: Persistent feeding difficulty also occurred in an isolated case; this mixed cohort does not establish an isolated-case frequency.
genetic:
- name: SOX9
  subtype: SOX9 regulatory
  association: Regulatory target of pathogenic noncoding deletions in a subset of isolated Robin sequence
  gene_term:
    preferred_term: SOX9
    term:
      id: hgnc:11204
      label: SOX9
  notes: >-
    SOX9 coding sequence is intact in the distal enhancer deletion
    discussed here. Experimental enhancer-cluster deletions establish a
    restricted expression mechanism, but no patient-cell expression assay
    for the complete F1 deletion is reported in the cited studies.
  variants:
  - name: Distal SOX9 enhancer deletion in family F1 (Benko 2009; refined Gordon 2014)
    variant_type: deletion
    type: Deletion with a 9 bp junction insertion
    genomic_contexts:
    - intergenic region
    affected_regions:
    - name: EC1.45 craniofacial enhancer cluster
      regulatory_element_type: ENHANCER
      description: >-
        Enhancer cluster approximately 1.45 Mb upstream of SOX9 within the
        intervening gene desert. This feature overlaps the family F1
        deletion and does not describe its complete extent. EC1.25 is a
        separate experimentally studied cluster, not part of the F1 deletion.
    regulatory_target_gene:
      preferred_term: SOX9
      term:
        id: hgnc:11204
        label: SOX9
    description: >-
      The historical approximately 75 kb F1 deletion was resolved by
      breakpoint-spanning sequencing as hg19 chr17:68,663,923-68,748,011
      inclusive, approximately 84 kb, accompanied by a 9 bp insertion.
      It overlaps EC1.45 in the SOX9 upstream gene desert and leaves SOX9
      coding sequence intact. POSTRE Table 1 patient Nr2 uses the earlier
      75 kb representation chr17:68,663,405-68,738,405 (hg19), citing Long
      2020, whose Figure 1 identifies the original F1 deletion. The POSTRE
      input interval is retained as benchmark provenance and is not treated
      as identical nucleotide-resolved boundaries or as a second allele.
    functional_effects:
    - function: SOX9 expression during cranial neural crest development
      type: Reduced gene expression
      regulatory_element_type: ENHANCER
      regulatory_mechanism: Deletion of distal craniofacial enhancer DNA
      description: >-
        The F1 deletion overlaps a cranial neural crest enhancer cluster.
        Engineered EC1.45 deletion, which is smaller than the patient
        deletion, reduces SOX9 expression in hESC-derived cranial neural
        crest cells but not in derived chondrocytes. Modular loss of
        expression is therefore a supported model for the patient's
        regulatory defect rather than a direct patient expression measurement.
    evidence:
    - reference: PMID:24934569
      reference_title: Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: "This analysis indicated a deletion of 84 kb (chr17:68,663,923-68,748,011 inclusive; Hg19), accompanied by an insertion of 9 bp"
      explanation: Defines the refined patient deletion and its junction insertion.
    - reference: PMID:32991838
      reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
      supports: SUPPORT
      directness: INDIRECT
      evidence_source: IN_VITRO
      snippet: "In summary, EC1.45 and EC1.25 are required for normal expression of SOX9 in the cranial neural crest"
      explanation: Functional perturbation of enhancer clusters supports SOX9 as the regulatory target without claiming an assay of the complete F1 allele.
experimental_models:
- name: Engineered SOX9 enhancer deletions in hESC-derived cranial neural crest cells
  experimental_model_type: OTHER
  cell_source: Genome-edited human embryonic stem cells differentiated into cranial neural crest cells and subsequently cranial chondrocytes
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  publication: PMID:32991838
  description: >-
    Heterozygous EC1.45 or EC1.25 deletions were engineered in hESCs.
    Allele-specific RT-ddPCR during differentiation demonstrated reduced
    SOX9 expression in cranial neural crest cells with loss of allelic
    skew after differentiation into chondrocytes. These engineered
    enhancer-cluster deletions are distinct from the larger clinical
    deletions, including the F1 allele.
  modeled_mechanisms:
  - target: Modular Loss of SOX9 Expression in Cranial Neural Crest
    relationship: RECAPITULATES
    fidelity: MODERATE
    model_scale: MOLECULAR
    limitations: Engineered enhancer-cluster deletions reproduce the expression mechanism but not the full patient F1 deletion or its genetic background.
    evidence:
    - reference: PMID:32991838
      reference_title: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
      supports: SUPPORT
      evidence_source: IN_VITRO
      snippet: "we generated hESC lines with heterozygous deletions of EC1.45 or EC1.25"
      explanation: Establishes the provenance of the engineered cellular models.
treatments:
- name: Individualized airway support
  description: >-
    Airway management is guided by respiratory severity and sleep studies.
    A prospective cohort that included isolated Robin sequence used
    non-surgical support such as nasopharyngeal airways and non-invasive
    ventilation. This evidence concerns clinical Robin sequence management
    and is not specific to the SOX9 regulatory subtype.
  treatment_term:
    preferred_term: Supportive Care
    term:
      id: NCIT:C15747
      label: Supportive Care
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Non-surgical respiratory treatment resulted in an improvement of respiratory outcomes to near normal during the first year of life in patients with RS."
    explanation: Reports clinical outcomes in a cohort including isolated and non-isolated cases.
- name: Feeding assessment and nutritional support
  description: >-
    Feeding assessment, growth monitoring, and supplemental enteral
    feeding address inadequate intake when required; persistent feeding
    difficulty can outlast the period of airway support.
  treatment_term:
    preferred_term: Nutritional Support
    term:
      id: NCIT:C15433
      label: Nutritional Support
  evidence:
  - reference: PMID:37728101
    reference_title: Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "A total of 31 (86%) patients required tube feeding during their first year of life."
    explanation: Documents use of tube feeding in the mixed clinical cohort; no subtype-specific treatment effect or frequency is inferred.
📚

References & Deep Research

Deep Research

1

Deep research results are used as seeds for research; they do not undergo the same validation as the main records and may contain errors. How we use deep research.

Evaluations and curation notes (1)

Create isolated Pierre Robin syndrome with a SOX9 regulatory subtype · 2026-09-21T17:09:52Z · View source

Created MONDO:0009869 after upstream, all-state PR, and issue duplicate preflight; the existing Agnathia-Otocephaly PR 8713 and issue 7666 only mentioned Pierre Robin as a differential. OAK confirmed the canonical label. GeneReviews and StatPearls baseline checks found no dedicated chapter. Curated the family F1 SOX9 upstream deletion from Benko 2009, refined by Gordon 2014 to hg19 chr17:68,663,923-68,748,011 inclusive with a 9 bp junction insertion; retained the different POSTRE Table 1 Nr2 75 kb interval only as benchmark provenance. Long 2020 enhancer experiments use engineered hESC-derived cranial neural crest cells, not patient cells or the full F1 deletion. Separate physical enhancer loss, context-restricted expression loss, and jaw undergrowth; classify experimental mLOE while marking patient extrapolation provisional, with intact SOX9 as regulatory target. Clinical features and supportive care use a prospective mixed Robin-sequence cohort without transferring pooled frequencies to isolated cases. Reviewed research/Isolated_Pierre_Robin_Syndrome-deep-research-asta.md and its validation: 28/28 identifiers resolved; no unresolved references. The report records requested Claude Code and actual Asta fallback. Relevance warnings were manually assessed: the Ukrainian Robin-sequence review is on-topic but its blanket sporadic-inheritance claim is not used; the Kniest/COL2A1 case is a syndromic differential and excluded. Automated named-entity preflight skipped because MONDO lacks a causal-gene annotation; manual label and synonym review confirmed isolated Robin sequence, and no syndromic findings were imported. The retrieval report informed scope only; YAML evidence was verified directly against Benko, Gordon, Long, Amarillo, the clinical cohort, and the consensus report. Schema, ontology terms, 19/19 exact snippets, causal targets, and entity references pass.

Asta ▸
Asta Literature Retrieval: Disease Characteristics Research Template Target Disease Disease Name: Isolated Pierre Robin Syndrome MONDO ID: MONDO...
Asta Scientific Corpus Retrieval 18 citations 2026-09-21T10:07:54.003612

Asta Literature Retrieval: Disease Characteristics Research Template Target Disease Disease Name: Isolated Pierre Robin Syndrome MONDO ID: MONDO...

This report is retrieval-only and is generated directly from Asta results.

  • Papers retrieved: 18
  • Snippets retrieved: 20

Relevant Papers

[1] Early communication intervention with young children with Pierre Robin sequence.

  • Authors: Lisl Fair, Brenda Louw
  • Year: 1998
  • Venue: The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings
  • URL: https://www.semanticscholar.org/paper/6c0e9efeb0bd67cc9b97712a02732877fec6b2eb
  • DOI: 10.4102/SAJCD.V45I1.718
  • PMID: 10472176
  • Citations: 6
  • Summary: The results indicated that regular early communication intervention sessions over an extended period of time produced positive results, especially for expressive language abilities, and hearing abilities and speech production skills of young children with Pierre Robin sequence should be followed closely duringEarly communication intervention.
  • Evidence snippets:
  • Snippet 1 (score: 0.701) > The speech-and language development of children with isolated Pierre Robin sequence was found to be impaired and the speech-and language development ofthose children with Pierre Robin sequence and an additional syndrome was found to be even more impaired and delayed than those with isolated Pierre Robin sequence. Since the study conducted by Pashayan & Lewis (1984), limited research was reported on the communication development of young children with Pierre Robin sequence, rendering their work to be a valuable source of information on the early communication development of these children. > According to Shprintzen and Bardach (1995) additional syndromes exist in more than half of all Pierre Robin sequence cases, such as Stickler syndrome (34% of all Pierre Robin sequence cases) and Velocardial Facial syndrome (11% of all Pierre Robin sequence cases). The presence of an additional syndrome in young children with Pierre Robin sequence places them at greater risk to display delayed or disordered communication development. Speech-language therapists delivering services to young children are advised to take cognisance ofthe fact that a relatively high number of children with Pierre Robin sequence may have an additional syndrome and to provide services that are responsive to the individual needs of each child (Shprintzen & Bardach, 1995).
  • Snippet 2 (score: 0.580) > The communication development of young children with Pierre Robin sequence is traditionally described as being characterised by the same impairments as that of children with cleft lip and palate, namely: velopharyngeal incom-Die Suid-Afrikaanse Tydskrif vir Kommunikasieafwykings, Vol. 45, 1998 Reproduced by Sabinet Gateway under licence granted by the Publisher ( dated 2012) petence, nasal emission, hypernasality, compensatory articulation patterns and delayed language development (McWilliams, Morris & Shelton, 1990). Infants with cleft lip and palate are classified as presenting an established risk for communication disorders (Rossetti, 1996), but the combination and magnitude of the risk factors present in the case history of most young children with Pierre Robin sequence can have an even greater influence on their communication development. A combination of established, biological and environmental risk factors are often associated with young children with Pierre Robin sequence and may have a negative influence on the way a child with Pierre Robin sequence interacts with his environment. These risk factors are summarised in Table 1. > Children with Pierre Robin sequence are described indepth in the literature due to the complexity ofthe disorder (Sadewitz, 1992) and special attention is given to research on the early medical complications accompanying Pierre Robin sequence (Bull et aI., 1990;Elliott et aI., 1995;Sadewitz, 1990). In spite of the number of studies on the medical complications of Pierre Robin sequence and the atrisk status of young children with Pierre Robin sequence, a dearth in the literature exists regarding information about the outcome of their communication development. An early study conducted by Pashayan and Lewis in 1984 provided information regarding the speech-and language development of children with isolated Pierre Robin sequence as well as of children with Pierre Robin sequence and an additional syndrome. The speech-and language development of children with isolated Pierre Robin sequence was found to be impaired and the speech-and language development ofthose children with Pierre Robin sequence and an additional syndrome was found to be even more impaired and delayed than those with isolated Pierre Robin sequence.

[2] Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

  • Authors: Anudeep Yekula, C. Grant, Mihir Gupta, D. Santiago-Dieppa, Pate J Duddleston et al.
  • Year: 2020
  • Venue: Child's Nervous System
  • URL: https://www.semanticscholar.org/paper/d41e370ce3f41e5e869ec246d18e58957e2b1305
  • DOI: 10.1007/s00381-020-04642-2
  • PMID: 32399800
  • PMCID: 7300078
  • Citations: 7
  • Summary: The need for early genetic testing and counseling in this patient population is emphasized, in parallel with research efforts to develop molecular classifications to guide clinical management, through a systematic review of spinal disease in patients with PRS.
  • Evidence snippets:
  • Snippet 1 (score: 0.639) > The Pierre Robin sequence (PRS), also known as Robin sequence, is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction [1]. The reported incidence varies widely with an approximate occurrence of 1 in 8500 to 14,000 births. Approximately 50% of PRS cases are isolated (non-syndromic), while the remainder are associated with additional anomalies such as a genetic or acquired syndrome [2][3][4][5]. > PRS is most commonly associated with hearing loss, dysmorphic facial features, global developmental delay/ intellectual disability, and/or congenital heart defects [4]. Spinal pathologies have rarely been reported in association with PRS, often co-occurring with other congenital anomalies [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. The molecular genetic and clinical characteristics of spinal disease in PRS remain poorly characterized. We thus performed a systematic review of spinal disease in patients with PRS. We additionally report a case of a PRS patient presenting with tethered cord and lumbar syrinx in the setting of chromosome 10q terminal deletion.
  • Snippet 2 (score: 0.536) > We performed a systematic search for all cases of spinal diseases in patients with PRS reported in the literature using the PubMed, Google Scholar, Trip, and MEDLINE databases. The search strategy and results are summarized in Fig. 2. Inclusion criteria were (1) confirmed PRS, (2) any spinal pathology, and (3) English language. Search strings included all combinations of the terms "Pierre Robin sequence" or "Robin sequence" with the terms "spine," "spinal," "vertebral," "tethered," and "scoliosis." Abstracts and full-text articles were screened to identify reports that passed the inclusion criteria. Additional publications were identified from the references listed in each study. We excluded reports that lacked caselevel descriptions of spinal pathology, clinical characteristics, or management. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) criteria were followed. Ethical approval for the case report was obtained from the Institutional Review Board of Rady Children's Hospital.

[3] Implementing the Brazilian Database on Orofacial Clefts

  • Authors: I. Monlleó, M. I. B. Fontes, E. Ribeiro, Josiane Custódio de Souza, G. Leal et al.
  • Year: 2013
  • Venue: Plastic Surgery International
  • URL: https://www.semanticscholar.org/paper/2cb27733af6824f7231879187a927700037957b1
  • DOI: 10.1155/2013/641570
  • PMID: 23577250
  • PMCID: 3610354
  • Citations: 21
  • Influential citations: 1
  • Summary: The potential and perspectives of the Brazilian Database on Orofacial Clefts (BDOC) may be useful to develop and improve personalized treatment, family planning, and healthcare policies, and could be incorporated into routine patient care.
  • Evidence snippets:
  • Snippet 1 (score: 0.619) > Individuals with typical OC and Pierre-Robin sequence in isolated and nonisolated presentation were included. Data on abortuses, stillbirths, cleft uvula, median, oblique, and submucous clefts were not included. > Typical OC (CL, CLP, and CP) and Pierre-Robin sequence were defined according to the International Classification of Diseases 10th Edition. Terms isolated and associated were used to refer to additional minor or major defects regardless of the cause or mechanism involved while syndromic and nonsyndromic, to refer to the underlying aetiology [13]. > Case classification was based on the definitions of the IPDTOC Working Group (2011) which defines three phenotype categories: isolated clefts, recognized syndrome, and multimalformed cases (MMC). Accordingly, cases of known nonrandom association (e.g., VACTERL) are included into the category of recognized syndromes. Cases with random combination of major unrelated defects with evidence of distinct aetiological factors are included in the group of MMC. Deformities were considered minor defects [12]. A list of minor defects was reviewed along with ICBDSR in May 2007 and is available at http://www.icbdsr.org/.

[4] The Robin Anomalad: A case report of genetic disorder with rare oral manifestations

  • Authors: K. Deotale, A. Lanjekar, I. Madne, R. Jaiswal, S. Chincholkar et al.
  • Year: 2024
  • Venue: Archives of Dental Research
  • URL: https://www.semanticscholar.org/paper/5cfc76bccb0bcb8762e8176f52483766a4245614
  • DOI: 10.18231/j.adr.2024.013
  • Summary: This case report describes a case of non-syndromic Pierre Robin Syndrome (ns-PRS) in a 17-year-old male patient with unique oral characteristics, adding to the body of knowledge on unusual PRS presentations. There was enough literature to support all of the unusual findings reported in this instance leading to a precise diagnosis of Grade I ns-PRS. Some individuals with PRS might show all the typical signs, whereas others may appear with only rare signs. Such kind of more rare manifestations...
  • Evidence snippets:
  • Snippet 1 (score: 0.590) > This case report describes a case of non-syndromic Pierre Robin Syndrome (ns-PRS) in a 17-year-old male patient with unique oral characteristics, adding to the body of knowledge on unusual PRS presentations. There was enough literature to support all of the unusual findings reported in this instance leading to a precise diagnosis of Grade I ns-PRS. Some individuals with PRS might show all the typical signs, whereas others may appear with only rare signs. Such kind of more rare manifestations should be recognized and should be reported further to add credence to the literature on unusual manifestations of PRS.

[5] DEFINING CHARACTERISTICS OF PRIMARY DENTITION IN A CHILD WITH ISOLATED PIERRE-ROBIN SEQUENCE: UNVEILING A NOVEL PHENOTYPIC EXPRESSION- A CASE REPORT

  • Authors: A. I., P. B., R. A.
  • Year: 2025
  • Venue: International Journal of Advanced Research
  • URL: https://www.semanticscholar.org/paper/fb38210f46b25aa94463ed08d47eee1f852a6bc3
  • DOI: 10.21474/ijar01/20669
  • Summary: A unique phenotypic expression of primary dentition in a child diagnosed with Pierre-Robin sequence is explored, exploring a unique phenotypic expression of primary dentition in a child diagnosed with Pierre-Robin sequence.
  • Evidence snippets:
  • Snippet 1 (score: 0.573) > DEFINING CHARACTERISTICS OF PRIMARY DENTITION IN A CHILD WITH ISOLATED PIERRE-ROBIN SEQUENCE: UNVEILING A NOVEL PHENOTYPIC EXPRESSION- A CASE REPORT

[6] Multidisciplinary treatment of Pierre Robin sequence: a review

  • Authors: Diego Thiers Oliveira Carneiro, José Ferreira da Cunha-Filho, Raquel Nascimento da Silva
  • Year: 2024
  • Venue: Brazilian Journal of Dentistry and Oral Radiology
  • URL: https://www.semanticscholar.org/paper/994f75f1d79b290abf1858f7ed39577ad577b68b
  • DOI: 10.52600/2965-8837.bjdor.2022.1.bjd10
  • Citations: 1
  • Summary: This study observed a journal of literature and the surgical and non-surgical treatment and multidisciplinary Hospital Infantil Albert Sabin with maxillofacial surgeons, orthodontists, neonatologists, pediatricians, pediatrics surgeons, plastic surgeons, and speech therapists for patients with SPR.
  • Evidence snippets:
  • Snippet 1 (score: 0.569) > Historically, Fairbairn in 1846, and Lannelongue and Menard in 1891, were the first to describe Pierre Robin Syndrome in patients who exhibited micrognathia, cleft palate, and glossoptosis. Pierre Robin, a French stomatologist, in 1923, pointed to the association of glossoptosis and micrognathia and later added references to cleft palates in his early writings eleven years afterwards [1][2][3]. In 1974, the triad was named Pierre Robin Sequence (PRS) [4]. The term "syndrome" is used when there is a simultaneous presence of several abnormalities originating from a single etiology. The term "sequence" is used when several abnormalities arise from a cascade of events initiated by a single malformation [2,4]. Thus, the term Pierre Robin Syndrome came to be known as Pierre Robin Sequence. Therefore, the well-known PRS has been designated as a non-specific symptomatic complex that can occur in various isolated situations, associated with some syndrome, or associated with other developmental errors, which together do not correspond to a specific syndrome [2]. > PRS is a triad of anomalies characterized by micrognathia and/or retrognathia, glossoptosis, and obstruction of the upper airways [5]. A cleft palate is present in 90% of the cases [3,6], which makes this clinical evidence not essential for diagnosis, as not all affected by PRS present this finding [7]. Airway obstruction and feeding difficulties are the most common and severe manifestations in the neonatal period. There is heterogeneity of clinical manifestations [8], observing mild expressions of respiratory and feeding difficulties to severe asphyxia crises, which can lead to death if there is no rapid medical intervention [9,10]. Syndromic craniofacial changes may accompany PRS, such as Stickler syndrome, Treacher Collins syndrome, and Neger syndrome, for example [6]. > The treatment of PRS can occur through non-surgical therapy or surgical intervention. Some newborns can be placed in the considered ideal posture, prone, until there is adequate growth of the jaw.

[7] A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

  • Authors: R. Bejiqi, R. Retkoceri, Hana Xhema-Bejiqi, R. Bejiqi, A. Maloku
  • Year: 2017
  • Venue: Medical Archives
  • URL: https://www.semanticscholar.org/paper/96d87f4cdd707f5ca4856b5a654ec63758085480
  • DOI: 10.5455/medarh.2017.71.141-143
  • PMID: 28790548
  • PMCID: 5511525
  • Citations: 1
  • Summary: The literature on the fetuses and neonates with cardiac tumors is reviewed in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group.
  • Evidence snippets:
  • Snippet 1 (score: 0.565) > Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group.

[8] Anorectal Malformation: An Atypical Association of Pierre Robin Sequence

  • Authors: Manal Farouk, S. Kaddah, M. Kotb
  • Year: 2022
  • Venue: Pediatric Sciences Journal
  • URL: https://www.semanticscholar.org/paper/4a1512079a63f6c3709f0a0c16e388ed5bee5568
  • DOI: 10.21608/cupsj.2021.100238.1031
  • Citations: 2
  • Summary: It is reported that single ventricle and anorectal malformation are rare associations of PRS, and prompt diagnosis and initiation of specific management is life-saving in any neonate and especially in those with structural malformations or deformities ofPRS.
  • Evidence snippets:
  • Snippet 1 (score: 0.564) > Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate or be part of a known syndrome as VACTREL or CHARGE, or be associated with other malformations as congenital heart disease, lung malformations, musculoskeletal system anomalies, and hereditary progressive arthro-ophthalmopathy. We report a neonate with PRS who presented by choanal atresia, sepsis, single ventricle, large ventricular septal defect; large patent ductus arteriosus, anorectal malformation in the form of high imperforate anus and rectovesical fistula. Anorectal malformation was not previously reported in Pierre Robin sequence. We report that single ventricle and anorectal malformation are rare associations of PRS. Examination for anorectal malformation, prompt diagnosis and initiation of specific management is life-saving in any neonate and especially in those with structural malformations or deformities of PRS. Level of Evidence of Study: IV (1).

[9] Pierre Robin Sequence

  • Authors: U. Rolle, Aranka Ifert, Robert Sader
  • Year: 2019
  • Venue: Pediatric Surgery
  • URL: https://www.semanticscholar.org/paper/fba2ec65fddfdd291f92c1af86e52ba3dcecbae0
  • DOI: 10.1007/978-3-642-38482-0_44-2
  • Summary: Pierre Robin sequence may be isolated or associated with a syndrome, the commonest being Stickler, Foetal Alcohol, Treacher-Collins and Velocardiofacial syndrome and patients are at risk of inadequate nutrition, aspiration and gastro oesophageal reflux disease.
  • Evidence snippets:
  • Snippet 1 (score: 0.563) > Disease summary: A diagnosis of Pierre Robin sequence (PRS) is established when a patient exhibits the three clinical hallmarks of microganthia (small mandible), glossoptosis (backward downward displacement of the tongue base) and airway obstruction present from birth. Cleft palate commonly occurs but is not a prerequisite for a diagnosis. Pierre Robin sequence may be isolated (20-40%) or associated with a syndrome, the commonest being Stickler, Foetal Alcohol, Treacher-Collins and Velocardiofacial syndrome. The anatomical features cause a variable degree of airway obstruction and patients may present with stridor, respiratory distress, cyanosis and signs of obstructive sleep apnoea (OSA). Patients may also exhibit other airway pathology such as laryngomalacia and subglottic stenosis. Patients are at risk of inadequate nutrition, aspiration and gastro oesophageal reflux disease. Incidence varies between 1:5000 to 1:85000, the range a reflection of the variable clinical presentation.

[10] Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report

  • Authors: Anan Abualshamat, A. Al-Agha
  • Year: 2019
  • Venue: Cureus
  • URL: https://www.semanticscholar.org/paper/933e194cb4477bc594af4fb36ec330d848f3f909
  • DOI: 10.7759/cureus.6475
  • PMID: 31903312
  • PMCID: 6935740
  • Citations: 1
  • Influential citations: 1
  • Summary: The case of a 5-year-old girl with short stature, polysyndactyly, and an ectopic kidney who presented with PRS features is reported.
  • Evidence snippets:
  • Snippet 1 (score: 0.559) > Pierre Robin sequence (PRS) is a combination of congenital anomalies comprising fetal gnathoglosso-palatoschisis. It was first described by Hilaire in 1822 and included micrognathia, cleft palate, and airway obstruction; this description was followed by that given by Fairbain in 1846 and by Shukowsky in 1911 [1]. Pierre Robin first reported the association between micrognathia and glossoptosis in 1923, which was followed by another case report in 1934 adding cleft palate to the description [2]. In the 1970s, the term "Pierre Robin syndrome" was changed to "Pierre Robin sequence" because the latter term implies a group of clinical findings [3]. The incidence of PRS varies from 1/31206 live births to 1/8060 live births [4][5].Both sex have equal prevalence [6]. PRS can be isolated (iPRS) or part of a genetic syndrome [7]. Severe respiratory distress and failure to thrive, the most common consequences of PRS, are usually secondary to small jaw, particularly when associated with glossoptosis [8][9]. We report a case of a 5-year-old girl with iPRS associated with an ectopic horseshoe kidney, polysyndactyly, and short stature.

[11] Pierre Robin sequence and keratoconus, a rare association

  • Authors: Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, S. González-Ocampo
  • Year: 2023
  • Venue: Iberoamerican Journal of Medicine
  • URL: https://www.semanticscholar.org/paper/bd1ccdd23178391e96a54fecc136f3978147be22
  • DOI: 10.53986/ibjm.2023.0006
  • Citations: 1
  • Summary: A patient with PRS who developed keratoconus is described as a rare manifestation of the disease and its management, and the features of the Robin sequence are illustrated.
  • Evidence snippets:
  • Snippet 1 (score: 0.558) > Pierre Robin Sequence (PRS) is a disorder affecting fundamentally the head and face, defined by micrognathia, glossoptosis and ultimately, airway restriction. Typically, a wide U-shaped cleft palate has been described associated with this syndrome [1,2]. The Pierre Robin condition is illustrated as a sequence because of the progression of its features. The underdevelopment of the mandible is thought to be secondary to an impairment in intrauterine growth. This micrognathia leads to downward displacement or retraction of the tongue (glossoptosis), which eventually results in airway obstruction and feeding difficulties [3]. Some patients have the features of PRS as part of a syndrome that affects other organs and tissues in the body, such as Stickler syndrome (most frequent) or campomelic dysplasia. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated [3]. Isolated PRS is typically sporadic but familiar heritance with autosomal dominant heritance has also been described. Various chromosomal anomalies have been associated with PRS, including regions 2q24.1-33.3, 4q32-qter, 17q21-24.3, and 11q21-23.1 [4]. Other associations include gene SOX9, known to be the most common cause of isolated Pierre Robin sequence. Such gene plays a major role in the formation of different tissues during the embryonic development, through the regulation of other genes, mainly those involved in the formation of the mandible. Alterations in the SOX9 gene derive in phenotype changes from cartilage defects during early facial growth [5][6][7]. > Santoro et al recently studied the prevalence of the disease, analyzing the cases of PRS collected by the populationbased congenital anomaly registries of EUROCAT and found that the overall prevalence was 12.0 per 100 000 births, being higher in the most recent 10-year period (2008-2017) [8].

[12] АНОМАЛАД П’ЄРА-РОБЕНА В КЛІНІЧНІЙ ПРАКТИЦІ ПЕДІАТРА

  • Authors: T. Kosovska, I. Chornomydz, V. Kosovska
  • Year: 2017
  • Venue: Unknown venue
  • URL: https://www.semanticscholar.org/paper/b4e942acf791c65cb91e5e62501026795577bddd
  • DOI: 10.11603/24116-4944.2017.2.7801
  • Summary: Relevant in this syndrome is to eliminate all adverse factors in the prenatal period, child development, prenatal diagnosis of medical genetic counseling to prevent the birth of a child with an inherited disease.
  • Evidence snippets:
  • Snippet 1 (score: 0.557) > Isolated cases anomalad Pierre-Robin are always sporadic. Anomalad is part of a syndrome of multiple birth defects, inheritance is determined depending on the type of inheritance underlying syndrome. Relevant in this syndrome is to eliminate all adverse factors in the prenatal period, child development, prenatal diagnosis of medical genetic counseling to prevent the birth of a child with an inherited disease.

[13] Cervical diastematomyelia in a patient with Pierre-Robin syndrome – A case report

  • Authors: Mehar Masroor, Alisha S. Ali, Talha Irshad, Gohar Javed
  • Year: 2026
  • Venue: Surgical Neurology International
  • URL: https://www.semanticscholar.org/paper/6ac9efe901a2824a3f0e0dbeeb1538d9fb7f61dc
  • DOI: 10.25259/SNI_877_2025
  • PMID: 41783179
  • PMCID: 12954261
  • Summary: A 6-month-old boy who has cervical diastematomyelia and Pierre-Robin syndrome is a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS.
  • Evidence snippets:
  • Snippet 1 (score: 0.555) > Pierre-Robin syndrome (PRS) is a congenital disorder characterized by mandibular hypoplasia resulting in backward displacement of the tongue that leads to upper airway obstruction and feeding difficulties. is was first described in 1891; however, the first case was published in 1923 by Pierre-Robin. [3] It can be due to genetic mutations or due to intrauterine growth restriction, leading to mandibular hypoplasia (micrognathia). PRS can be found in isolation or in association with other syndromes, such as stickler syndrome, Treacher Collins syndrome, or in association with other anomalies. e most common anomaly found in association with PRS is cleft palate. > Split cord malformation (SCM) or diastematomyelia refers to a congenital condition resulting in the division of the spinal cord into two hemi-cords by a bony, fibrous, or cartilaginous septum. It is also found to be associated with several malformations, such as Klippel-Feil anomaly, Arnold Chiari deformity, and myelomeningocele. [9] Most commonly diastematomyelia are found at the lumbar level. Cervical diastematomyelia itself is extremely rare with only 75 cases reported to date. [8] In this case report, we present a child with Pierre-Robin sequence and cervical diastematomyelia. To the best of our knowledge, no reported case in the literature has discussed the association of cervical diastematomyelia in patients with the Pierre-Robin sequence.

[14] Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

  • Authors: Xinlei Zhu, Xiaoli Xing, Dongfang Li, Bin Yu
  • Year: 2023
  • Venue: Medicine
  • URL: https://www.semanticscholar.org/paper/6cd37ab174c342d4041043b4f0c79f85697ebd5a
  • DOI: 10.1097/MD.0000000000036090
  • PMID: 38013291
  • PMCID: 10681563
  • Citations: 3
  • Summary: Advances in genetic screening have improved the management of retinal detachment risk in Kniest dysplasia patients, and surgical intervention successfully reattached the retina and restored vision to 20/25 in the affected eye.
  • Evidence snippets:
  • Snippet 1 (score: 0.553) > Additionally, the identified COL2A1 gene mutation represents the first report of this particular variant in Kniest dysplasia. > Ocular manifestations of hereditary diseases are often overlooked.The patient's right eye was completely blind due to missed surgical intervention.Fortunately, vision in the left eye was restored through elaborate surgery.If childhood eye examinations had been performed regularly after being informed of potential accompanying ocular disease, his condition may have been less severe on presentation to our Ophthalmology Clinic.Previous studies have recommended complete ophthalmologic exams for patients clinically diagnosed with Kniest dysplasia. [11]Congenital non-progressive high myopia, vitreous abnormalities, and retinal detachment are important ocular features of this condition. [9]Additionally, other type II collagen disorders may demonstrate similar ophthalmic findings, thus regular ophthalmologic follow-up is advised. [12]nlike other cases of Kniest dysplasia, this patient was diagnosed with Pierre Robin syndrome in early childhood.Pierre Robin syndrome was first described in 1923 by the French stomatologist Pierre Robin, who reported the association between micrognathia, glossoptosis, and cleft palate. [13]Previous studies have demonstrated that Robin sequence can be associated with various genetic syndromes, most commonly Stickler syndrome and 22q11 deletion syndrome (22q11 DS). [14]The presence of ocular, skeletal or auditory abnormalities in children with Pierre Robin Sequence (PRS) should prompt suspicion for an underlying genetic syndrome.Compared to isolated PRS, additional features of Kniest dysplasia include hearing loss, retinal detachment, and progressive ocular complications that may eventually lead to blindness, as exemplified in this patient's right eye. [15]Early identification of the genetic syndrome underlying PRS is crucial for prompt ophthalmologic referral to monitor for myopia, retinal detachment, and prevention of visual complications. [16]

[15] Pierre Robin Sequence- Manifestation and Case Report

  • Authors: E. Mass, S. Segal, Y. Arieli, U. Zilberman
  • Year: 2018
  • Venue: Oral Health and Dental Studies
  • URL: https://www.semanticscholar.org/paper/2d0ab81e67df7ab2a436eda43cf48c4c43266b0e
  • DOI: 10.31532/oralhealthdentstud.1.1.004
  • Citations: 1
  • Summary: A multidisciplinary team including pediatric, ENT, general and oral surgeons, speech therapist, pediatric dentist, and orthodontic specialists should be involved in the treatment of PRS children for a relatively better quality of life outcome.
  • Evidence snippets:
  • Snippet 1 (score: 0.547) > According to the Clinical Consensus report on Pierre Robin sequence (PRS), Pierre Rubin is comprising of mandibular micrognathia, glossoptosis and airway obstruction, leading to life-1 threatening obstructive apnea and feeding difficulties during the neonatal period. Cleft palate is considered a common and additional feature, but not a perquisite for diagnosis. > The sequence is named after Pierre Robin, whose report was published in 1923 (earlier 2,3 reports were in 1822). The reported incidence is estimated to be 1:8,500-14,000. Williams 4 and his colleagues have argued that not every child with a cleft palate and micrognatia is defined as suffering from PRS, but breathing difficulty is a necessary element for the definition. > The syndrome is defined as a sequence, a collection of anomalies caused by early developmental disorders or mechanical processes. The explanation of the sequence definition rather than a syndrome is based on early mandibular developmental disorder, which leads to abnormal tongue position, followed by a series of events, leading to formation of cleft 5 lip and palate. > Fourteen different phenotypes of PRS were found, which accentuate the variability of the 5 diagnosis and definition. The differences in defining the sequence also cause differences in 5,6 the prevalence and in reports of related syndromes. > PRS may be identified in more than 40 syndromes. It is difficult to identify it during birth and to distinguish it from other related syndromes.

[16] Predicting Syndromic Status Based on Longitudinal Data from Parental Reports of the Presence of Additional Structural and Functional Anomalies in Children Born with an Orofacial Cleft

  • Authors: A. Davies, Yvonne E. Wren, M. Hamilton, J. Sandy, E. Stergiakouli et al.
  • Year: 2024
  • Venue: Journal of Clinical Medicine
  • URL: https://www.semanticscholar.org/paper/21e9031f5733f232a6cb1dd61e14d1cb52024707
  • DOI: 10.3390/jcm13226924
  • PMID: 39598068
  • PMCID: 11594774
  • Citations: 2
  • Summary: Children born with a cleft who present with two or more anomalies are much more likely to have a syndrome than those with fewer anomalies and should be prioritised for genetic screening and counselling.
  • Evidence snippets:
  • Snippet 1 (score: 0.541) > Data from the Cleft Collective were used to compare syndrome diagnosis between OFC subtypes, biological sex and the presence of two or more structural and functional anomalies. Among our study, the distribution of OFC subtypes and biological sex was similar to that seen in the UK cleft population born between 2020 and 2022 [29], and although we noted some small differences, this is likely due to our sample being born between 2008 and 2022 and due to small levels of sampling error. > Among participants who had two structural and functional anomalies, a diagnosed syndrome and/or sequence was reported in 27.0%, and when excluding isolated Pierre Robin sequence, 16.6% had a diagnosed syndrome. As the number of anomalies present increased so did the proportion of those with a diagnosed syndrome. Among participants who had reported five or more co-occurring anomalies, the proportion of those with a diagnosed syndrome or sequence was 81.5%. The largest difference in the prevalence of anomalies between syndromic and non-syndromic cases was seen in development problems with the jaw (27.3% versus 2.3%, respectively) and developmental delay (30.2% versus 7.2%, respectively). Developmental delay often occurred alongside an additional anomaly (38.3% of cases had developmental delay plus an additional anomaly) and was seen in children with Stickler syndrome, 22q11 deletion, craniosynostosis and CHARGE syndrome. > When exploring the likelihood of having a diagnosed syndrome by anomaly presentation, we excluded those children with isolated Pierre Robin sequence because children with Pierre Robin sequence, by definition, have additional anomalies; also, Pierre Robin sequence is usually diagnosed soon after birth, and those children are likely to be prioritised for genetic testing and hence are more likely to have a syndrome diagnosed if present. We investigated the likelihood of having a syndrome based on the presence of structural and functional anomalies, and for the anomalies we explored, we found that where present the likelihood of having a syndrome was between 19% and 75%.

[17] Dentoskeletal characteristics of non-syndromic pierre robin sequence and isolated incomplete cleft palate children: a retrospective case control study

  • Authors: Xiang Zhang, Shuang Yang, Xudong Yang, Zhi-Bo Zhou
  • Year: 2025
  • Venue: Frontiers in Pediatrics
  • URL: https://www.semanticscholar.org/paper/298cb495a2835ccde1a6abc953c3e70d193bcd24
  • DOI: 10.3389/fped.2025.1519266
  • PMID: 40066465
  • PMCID: 11891179
  • Summary: The ANB angle, the ArGo/GoPO ratio and the anteroposterior length and area of LPAS could serve as valuable indicators to identify micrognathia in patients with non-syndromic PRS.
  • Evidence snippets:
  • Snippet 1 (score: 0.536) > Dentoskeletal characteristics of non-syndromic pierre robin sequence and isolated incomplete cleft palate children: a retrospective case control study

[18] Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

  • Authors: Susan M. Motch Perrine, Meng Wu, Greg Holmes, B. Bjork, E. Jabs et al.
  • Year: 2020
  • Venue: Journal of Developmental Biology
  • URL: https://www.semanticscholar.org/paper/96d790eff1683ce0c67006a036e8087b65e80f54
  • DOI: 10.3390/jdb8040030
  • PMID: 33291480
  • PMCID: 7768358
  • Citations: 18
  • Influential citations: 2
  • Summary: This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.
  • Evidence snippets:
  • Snippet 1 (score: 0.533) > Stomatologist Pierre Robin published an article in 1923 [1] describing a triad of clinical findings in a series of patients, namely, micrognathia, glossoptosis, and obstruction of the upper airways [7]. > Following his widely read contribution to the literature on micrognathia in newborns [2], this triad became known as Pierre Robin syndrome by clinicians [3]. Robin considered acquired or congenital glossoptosis as a consequence of a small mandible leading to respiratory problems. These conditions ultimately result in "physical backwardness" in infancy that persists into adulthood. He also introduced the association of these anomalies with CP [2]. Robin linked the respiratory problems in these children to their physical and psychological development, and indicated that infants with severe retrognathia rarely survive beyond 18 months of age [2]. Through the 1960s, clinicians noted that PR generally occurred without other significant birth defects, although the case of a two-month-old male infant with PR and severe bilateral congenital glaucoma indicated ocular involvement in some affected individuals [8]. Natal teeth were associated with one PR patient in a cohort of infants born at Foothills Provincial Hospital in Calgary, Canada, between 1967 and 1984 [9]. > The condition was known as Pierre Robin syndrome for nearly 50 years before it was understood that multiple etiologies could underlie the same clinical findings, which did not fit with the prevailing definition of a syndrome: a combination of symptoms resulting from a single cause [10]. In the 1970s, the term Pierre Robin anomalad was introduced [4,5], with the implication that the condition was not a specifically delineated syndrome. Anomalad signifies an etiologically nonspecific complex that can occur as a component of various genetic or teratogenic syndromes of known cause, syndromes of unknown etiology, or as an isolated symptom complex secondary to positional deformation or disruption [11,12]. Anomalad denotes a pattern of morphologic defects that stem from a single, localized, structural anomaly resulting in a cascade of consequent defects [13], so the term implies a sequence of developmental consequences of a primary defect.

Notes

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  • No synthesis or second-stage model call is performed.

Reference Validation

Checked with linkml-reference-validator 0.2.1.

Outcome Count
References checked 28
Resolved 28
Unresolved (possible confabulation) 0
Unverifiable 0
References weighed for topical relevance 28
On topic 11
Off topic 2

References that may not be about this subject

These identifiers resolve, so they are not fabrications, but the records they resolve to share almost none of this report's vocabulary. That is a clue and not a verdict - a paper can be relevant in ways its title and abstract do not spell out - so read them before deciding:

  • DOI:10.11603/24116-4944.2017.2.7801 (1 mention) - АНОМАЛАД П’ЄРА-РОБЕНА В КЛІНІЧНІЙ ПРАКТИЦІ ПЕДІАТРА
  • shared terms: none
  • DOI:10.1097/MD.0000000000036090 (1 mention) - Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report
  • shared terms: associated, patient

Weighed against this report's own most characteristic terms: snippet, syndrome, robin, pierre, sequence, year, score, venue, url, isolated, cleft, prs, associated, palate, patient, anomalie, association, glossoptosis, micrognathia, airway.

All extracted references resolved successfully. Resolving is not the same as being relevant, though - see the references listed above as possibly off topic.

Term Validation

No ontology term identifiers were found in this report.