title: Phocomelia, flexion deformities and absent thumbs: a new hereditary upper limb malformation.
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002648:Child; D003286:Contracture / Q000151:congenital / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis; D009154:Mutation; D011859:Radiography; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*