Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Mandibular prognathia

Abnormal prominence of the chin related to increased length of the mandible.

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PMID (PMCID)