Complete overlap of PHACE syndrome and sternal malformation - Vascular dysplasia association

被引：29

作者：

James, PA ^{[1
]}

McGaughran, J ^{[1
]}

机构：

[1] Auckland Hosp, No Reg Genet Serv, Auckland, New Zealand

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 01期

关键词：

hemangiomas; midline ventral defects; absence of left carotid artery; coarctation of the aorta; mental retardation;

D O I：

10.1002/ajmg.10398

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

PHACE syndrome is the term applied to the association of posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects, and eye abnormalities. An overlap with the sternal malformation/vascular dysplasia association has been described. We report an adult patient with complete manifestations of both conditions. As an adult she has demonstrated resolution of the hemangiomas and only mild intellectual difficulties. (C) 2002 Wiley-Liss, Inc.

引用

页码：78 / 84

页数：7

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