Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome.
Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.
D000015:Abnormalities, Multiple; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006130:Growth Disorders / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome