title: An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000150:complications; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005804:Genes, Lethal; D005808:Genes, Recessive; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D017880:Limb Deformities, Congenital; D010375:Pedigree; D011859:Radiography; D013896:Thoracic Diseases / Q000000981:diagnostic imaging / Q000235:genetics*