Mesomelic Dwarfism as the Homozygous Expression of Dyschondrosteosis

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Abstract
Pedigree analysis in this kindred is compatible with an autosomal dominant inheritance. The parents and three other family members have clinical and radiological features of dyschondrosteosis. The two propositi, a boy and a girl, have mesomelic dwarfism and hypoplasia of the mandible, ulna, and fibula. It is our interpretation that mesomelic dwarfism is the clinical manifestation of the homozygous state for dyschondrosteosis.

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