Recessive omodysplasia: five new cases and review of the literature.
BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. OBJECTIVE: The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. MATERIALS AND METHODS: Five new patients, including two sibs, with aut...Expand abstract
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