## Abstract ## BACKGROUND The pathogenesis of congenital diaphragmatic hernia (CDH), a severe birth defect, is not well understood; however, both developmental genes and environmental factors have been suggested to be involved. CDH is frequently associated with malformations of other structures, s
Single gene disorders associated with congenital diaphragmatic hernia
β Scribed by Anne M. Slavotinek
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 168 KB
- Volume
- 145C
- Category
- Article
- ISSN
- 1552-4868
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## Abstract Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in pa
Several studies have been published on congenital diaphragmatic hernia (CDH), either as an isolated defect or as part of a multiple congenital anomaly (MCA) pattern. Here we present an epidemiological study designed to measure the association between CDH and a group of 17 selected congenital anomali
## Abstract ## BACKGROUND Bilateral congenital diaphragmatic hernia is a rare form of diaphragmatic hernia. Independently, pericardial defects are an extremely rare phenomenon. In the case presented, we provide the first complete description of an infant with bilateral congenital diaphragmatic her