Craniofacial clefts have an incidence of 1/700 [...]

In the U.S., birth defects occur in 3-5% of live-births and comprise the leading cause of infant mortality, producing a substantial economic, social, and emotional burden. The case-control studies presented in this dissertation tested two major questions: 1) does an association exist between environmental factors, candidate genes and birth defects?; and 2) are there interactions between these g...

OBJECTIVES Data from a hospital based case-control study were analysed to assess the relation between maternal occupation in the leather industry and several groups of congenital defects (nervous system, cardiac defects of closure, oral cleft, epispadia or hypospadia, and multiple anomalies). METHODS Cases and controls were selected from eight public hospitals in Comunidad Valenciana, Spain, ...

Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic . A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centr...

OBJECTIVES We investigated the influence of genetic variation of the transforming growth-factor alpha (TGFA) locus on the relationship between smoking and oral clefts. MATERIALS AND METHODS In this study 105 Iranian infants with non-syndromic cleft lip/palate and 218 controls with non-cleft birth defects were examined to test for associations among maternal exposures, genetic markers, and ora...

Previous studies suggest that the risk of nonsyndromic cleft lip with or without cleft palate (CL±P) and isolated cleft palate (CP) is influenced by genetic variation at several loci and that the relation between specific genetic variants and disease risk may be modified by environmental factors. The present study evaluated potential associations between CL±P and CP and two putative clefting su...

Since 2005 in France, the national technical committee of prenatal ultra-sound screening (CNTE) has recommended that pregnant women have a routine second trimester ultrasound screening for facial clefts. The view on the coronal reference plane visualizes the continuity of the upper lip, and makes it possible to detect most facial clefts, but not isolated palatal clefts.