We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes
Diaphragmatic defects and limb deficiencies—Taking sides
✍ Scribed by Jane A. Evans
- Book ID
- 101453153
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 101 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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## 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
Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb defor
McCredie and Reid [(1978): J Pediatr 92: 76!2-7651 described an association of diaphragmatic hernia and upper limb deficiencies. Lerone et al. [(1992): Am J Med Genet 445427-8291 recently described a new case with this combination. We present an epidemiological study using two analytic methods with