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March 1975

Mesomelic Dwarfism as the Homozygous Expression of Dyschondrosteosis

Author Affiliations

From the Variety Club Growth and Development Clinic, Children's Hospital of Michigan, and the Department of Pediatrics, Wayne State University School of Medicine, Detroit.

Am J Dis Child. 1975;129(3):375-377. doi:10.1001/archpedi.1975.02120400075020

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.