NDLI: Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.

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Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Genisca, Alicia E. Frías, Jaime L. Broussard, Cheryl S. Honein, Margaret A. Lammer, Edward J. Moore, Cynthia A. Shaw, Gary M. Murray, Jeffrey C. Yang, Wei Rasmussen, Sonja A.
Spatial Coverage	United States
Description	Country affiliation: United States Author Affiliation: Genisca AE ( Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.)
Abstract	Orofacial clefts are among the most common types of birth defects, but their clinical presentation has not been well described in a geographically diverse US population. To describe the birth prevalence and phenotype of nonsyndromic clefts, we used data from the National Birth Defects Prevention Study (NBDPS), a multi-site, population-based, case-control study aimed at identifying genetic and environmental risk factors for birth defects. Included in the study were infants born during 1997-2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP). Infants with clefts associated with recognized single-gene disorders, chromosome abnormalities, holoprosencephaly, or amniotic band sequence were excluded. A total of 3,344 infants with nonsyndromic orofacial clefts were identified, including 751 with CL, 1,399 with CLP, and 1,194 with CP, giving birth prevalence estimates of 0.3, 0.5, and 0.4/1,000 live births, respectively. Among infants with CLP where cleft laterality was specified, about twice as many had unilateral vs. bilateral involvement, while for CL there were over 10 times as many with unilateral versus bilateral involvement. Involvement was most often left-sided. About one-quarter of infants with CP had Pierre Robin sequence. Over 80% of infants had an isolated orofacial cleft. Among infants with CL or CLP, heart, limb, and other musculoskeletal defects were most commonly observed, while heart, limb, and central nervous system defects were most common among infants with CP. Better understanding of the birth prevalence and phenotype may help guide clinical care as well as contribute to an improved understanding of pathogenesis.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.32854
Journal	American Journal of Medical Genetics Part A
Issue Number	6
Volume Number	149A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Cleft Lip Epidemiology Cleft Palate Congenital Abnormalities Prevention & Control Abnormalities, Multiple Case-control Studies Epidemiologic Methods Infant, Newborn Pierre Robin Syndrome Pregnancy Retrospective Studies Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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