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Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

2007; Wiley; Volume: 145C; Issue: 2 Linguagem: Inglês

10.1002/ajmg.c.30126

1552-4876

Barbara R. Pober,

Tracheal and airway disorders

Abstract Congenital diaphragmatic hernia (CDH) is a common and well‐studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH‐multiplex families, and the co‐occurrence of CDH with additional congenital malformations. © 2007 Wiley‐Liss, Inc.