Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects:: report of an additional case

被引：10

作者：

Priolo, M ^{[1
]}

Casile, G ^{[1
]}

Laganà, C ^{[1
]}

机构：

[1] Azienda Osped Bianchi Melacrino Morelli, Operat Unit Med Genet, Reggio Di Calabria, Italy

来源：

CLINICAL DYSMORPHOLOGY | 2004年 / 13卷 / 01期

关键词：

pulmonary agenesis/hypoplasia; microphthalmia; diaphragmatic defect; developmental field defect; association; polytopic field;

D O I：

10.1097/00019605-200401000-00013

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Diaphragmatic defects with associated pulmonary hypoplasia/agenesis and anophthalmia/microphthalmia have been reported as part of a complex syndromic phenotype. We report a case with the combination of these malformations.

引用

页码：45 / 46

页数：2

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