Thanatophoric dysplasia of the straight-bone type (type 2).
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.
Regional Genetic Service, St Mary's Hospital, Manchester, UK.
A M
AM
Norman
S
S
Rimmer
S
S
Landy
D
D
Donnai
D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics