Robinow M, Unger F
Am J Dis Child. 1984 Sep;138(9):821-3. doi: 10.1001/archpedi.1984.02140470021007.
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.
条纹状骨病、巨头畸形和颅骨硬化症并存，并伴有某些其他先天性异常，构成一种罕见的常染色体显性畸形综合征。本文报告的一例新病例展示了该综合征在婴儿期和幼儿期的自然发展过程。由于巨头畸形可能是最初的表现，对于原因不明的巨头畸形婴儿，在鉴别诊断时应考虑该综合征。
