Document Detail

Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997.
MedLine Citation:
PMID:  14994232     Owner:  NLM     Status:  MEDLINE    
Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed among 3548991 liveborn and 23239 stillborn offspring of California women who delivered in nonmilitary hospitals during the period, 1983-1997. Structural congenital malformations were found in 91888 births. Among them, 2343 had CP and 4072 had CLP. Malformations were grouped according to 3- and 4-digit codes of the British Pediatric Association (BPA). Prevalences of each malformation grouping, defined by these codes, were calculated among: (1). all births with CP; (2). all births with CLP; (3). all births without CP or CLP but with another structural malformation; and (4). all births in the population at risk. These various prevalence measures were the basis of estimating relative risks. Observed relative risks indicated that some phenotypes were more likely and some were less likely to co-occur with either CP or CLP, with relative risks ranging from 0.5 to 2.4. For both CP and CLP, estimated relative risks were highest for malformations involving the respiratory system and lowest for spina bifida. The exclusion of all births (n = 10702) with chromosomal anomalies from comparisons did not materially alter observed relative risk estimates. Computations extended to 4-digit level BPA codes revealed elevated risks for a number of more specific diagnoses seen within the larger (3-digit level) groupings defined as eye, ear, respiratory, upper alimentary tract, and other musculoskeletal anomalies. In this large population-based cohort of infants and fetuses with CLP or CP, we observed several noncleft malformation groupings to be more common and others to be less common in their co-occurrence with orofacial clefts relative to their co-occurrence with any other malformation. These observed patterns tended to be similar for CP and for CLP.
Gary M Shaw; Suzan L Carmichael; Wei Yang; John A Harris; Edward J Lammer
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  125A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-03-02     Completed Date:  2004-10-05     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  250-6     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94710, USA.
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MeSH Terms
California / epidemiology
Cleft Lip / epidemiology*
Cleft Palate / epidemiology*
Cohort Studies
Congenital Abnormalities / epidemiology*
Infant, Newborn
Risk Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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