Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
A male infant, the offspring of a father-daughter mating, is described. He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys. The brain was very short in the anterior-posterior diameter with simplified broad convolutions (a form of pachygyria).
Winter
R M
RM
Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
Harding
B N
BN
Hyde
J
J
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome