Autosomal recessive alobar holoprosencephaly with essentially normal faces

被引：16

作者：

Barr, M

Cohen, MM

机构：

[1] Univ Michigan, Dept Pediat Pathol, Ann Arbor, MI USA

[2] Univ Michigan, Dept Obstet, Ann Arbor, MI USA

[3] Dalhousie Univ, Hlth Serv Adm, Halifax, NS, Canada

[4] Dalhousie Univ, Dept Pediat Community Hlth, Halifax, NS, Canada

[5] Dalhousie Univ, Dept Epidemiol, Halifax, NS, Canada

[6] Dalhousie Univ, Hlth Serv Adm, Halifax, NS, Canada

[7] Dalhousie Univ, Hlth Serv Sciol & Social Anthropol, Halifax, NS, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 112卷 / 01期

关键词：

nondiagnostic faces; neurologic outcome; infants of diabetic mothers;

D O I：

10.1002/ajmg.10587

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. We report three siblings with alobar holoprosencephaly and essentially normal faces. A similar family was reported by Khan et al. [1970: Dev Med Child Neurol 12:71-76]. Alobar holoprosencephaly with essentially normal faces has also been observed in infants of diabetic mothers [Barr et al., 1983: J Pediatr 102:565-568]. (C) 2002 Wiley-Liss, Inc.

引用

页码：28 / 30

页数：3

共 9 条

[1] HOLOPROSENCEPHALY IN INFANTS OF DIABETIC MOTHERS [J].