Familial pterygium syndrome.
Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D009333:Neck / Q000002:abnormalities; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome