Syndrome of osteopathia striata, macrocephaly, and cranial sclerosis.
The combination of osteopathia striata, macrocephaly, and cranial sclerosis, variably associated with certain other congenital anomalies, constitutes a rare autosomal dominant malformation syndrome. A new case presented herein demonstrates the natural evolution of the syndrome in infancy and early childhood. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly.
D001847:Bone Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D011859:Radiography; D012598:Sclerosis; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology*; D013577:Syndrome