An unusual case of short limbed dwarfism and thoracic dystrophy with normal spine, hands and feet.
We report an unusual form of chondrodystrophy identified in a female infant at birth. She was severely delayed developmentally and expired at one year of age. The dwarfism was characterized by brachymelia, dysmorphic features and unusual radiologic findings of the extremities and thorax. The spine, hand and foot X-rays were normal. The clinical and radiologic manifestations are unique and unrelated to other described entities.
D004392:Dwarfism / Q000000981:diagnostic imaging*; D005121:Extremities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*