Prenatal diagnosis of metatropic dwarfism.
We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic 'dumb-bell' appearance of the long bones.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000196:embryology; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D002356:Cartilage / Q000473:pathology; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal