Question
What phenotype manifestations of metatropic dysplasia are directly supported by primary PMID-backed evidence and precise HPO mappings?
Key sources reviewed
- PMID:20425821, Camacho et al. 2010. Core clinical and radiographic phenotype plus additional manifestations from the cached full text.
- PMID:21658220, Andreucci et al. 2011. Spectrum cohort including 15 metatropic dysplasia patients; useful for shared short stature/platyspondyly/progressive scoliosis language.
- PMID:19232556, Krakow et al. 2009. Nonlethal metatropic dysplasia within the TRPV4 spectrum; useful for progressive scoliosis, metaphyseal involvement, and carpal ossification delay.
- PMID:28321993, Theroux et al. 2017. Largest metatropic dysplasia anesthetic cohort; useful for spinal canal narrowing/stenosis and airway-related complications.
- PMID:21964829, Unger et al. 2011. Severe overlap phenotype with fetal akinesia and congenital contractures.
Phenotypes selected for YAML curation
- Disproportionate short-limb short stature Evidence basis: PMID:20425821 plus PMID:21658220.
- Kyphoscoliosis Evidence basis: PMID:20425821.
- Platyspondyly Evidence basis: PMID:21658220.
- Joint contractures Evidence basis: PMID:20425821 full text.
- Hypoplasia of the odontoid process Evidence basis: PMID:20425821 full text.
- Spinal canal stenosis Evidence basis: PMID:28321993.
- Thoracic hypoplasia and neonatal respiratory distress Evidence basis: PMID:20425821 full text.
- Metaphyseal widening Evidence basis: PMID:20425821.
- Dumbbell-shaped long bones Evidence basis: PMID:20425821.
- Halberd-shaped pelvis Evidence basis: PMID:20425821.
- Brachydactyly Evidence basis: PMID:20425821.
- Delayed ossification of carpal bones Evidence basis: PMID:20425821 and PMID:19232556.
- Frontal bossing and midface retrusion Evidence basis: PMID:20425821.
- Sensorineural hearing impairment Evidence basis: PMID:20425821 full text.
Manifestations reviewed but not generalized into the main phenotype list
- Fetal akinesia PMID:21964829 supports this in severe overlap cases caused by certain TRPV4 variants, but the paper explicitly frames it as unusual and mutation-specific, so it was not generalized as a core phenotype of metatropic dysplasia.
- Difficult airway PMID:28321993 supports this as a peri-anesthetic management problem, but it is more a procedural consequence of the skeletal phenotype than a clean disease phenotype term for the YAML phenotype section.
- Squared-off jaw PMID:20425821 clearly mentions it, but I did not add it because the corresponding HPO grounding was less straightforward than the other craniofacial findings and the current issue prioritized well-grounded ontology specificity.