Severe short-limb dwarfism resembling Grebe chondrodysplasia.
A severe, nonlethal short-limb bone dysplasia is described in two unrelated patients. The disorder is characterized by a peculiar facial appearance, rib anomalies and severe shortness and distortion of individual long bones, notably the humeri, tibiae, fibulae, metapodia and phalanges with marked irregularity and asymmetry of bone changes. The condition is differentiated from other bone dysplasias with extreme limb shortness, in particular Grebe chondrodysplasia.
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D013577:Syndrome