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spondyloepiphysial dysplasia congenita


Definition: a skeletal dysplasia characterized by short-trunk dwarfism with short limbs, delayed ossification of the pubic rami and femoral and tibial epiphyses, flattening of the vertebral bodies, myopia, retinal detachment, and cleft palate; autosomal dominant inheritance caused by mutation in the type II collagen gene (COL2A1) on 12q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.