Carcao M, Blaser S I, Grant R M, Weksberg R, Siegel-Bartelt J
Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet. 1998 Mar 5;76(2):165-7.
We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype.
我们描述了一名患有先天性大理石样皮肤毛细血管扩张性巨脑症（M-CMTC）、樱桃红斑、半侧面部及节段性过度生长的巨脑症、巨大儿、躯干先天性大理石样皮肤毛细血管扩张以及内脏和皮下海绵状血管瘤的儿童。巨脑症伴有中枢神经系统发育异常的MRI表现，包括小脑扁桃体经枕骨大孔突出（Chiari I型）、腰段脊髓空洞症和视神经积水。这名额外患者的报告进一步证实了新描述的先天性大理石样皮肤毛细血管扩张性巨脑症是一种独特的临床表型。
