Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

被引：14

作者：

Brooks, AS

van Dooren, M

Hoogeboom, J

Gischler, S

Willems, PJ

Tibboel, D

机构：

[1] Erasmus Med Ctr, Dept Clin Genet, NL-3016 AH Rotterdam, Netherlands

[2] Sophia Childrens Univ Hosp, Eramus Med Ctr Rotterdam, Dept Paediat Surg, Rotterdam, Netherlands

来源：

CLINICAL DYSMORPHOLOGY | 2002年 / 11卷 / 02期

关键词：

craniofrontonasal syndrome; congenital diaphragmatic hernia;

D O I：

10.1097/00019605-200204000-00019

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 21-mouth-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.

引用

页码：151 / 153

页数：3

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