{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T10:10:41Z","timestamp":1773828641103,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,8,29]],"date-time":"2003-08-29T00:00:00Z","timestamp":1062115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Few population\u2010based epidemiologic data are available on malformation phenotypes that co\u2010occur 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\u2010based active surveillance system. Ascertainment was performed among 3,548,991 liveborn and 23,239 stillborn offspring of California women who delivered in nonmilitary hospitals during the period, 1983\u20131997. Structural congenital malformations were found in 91,888 births. Among them, 2,343 had CP and 4,072 had CLP. Malformations were grouped according to 3\u2010 and 4\u2010digit 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\u2010occur 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\u2009=\u200910,702) with chromosomal anomalies from comparisons did not materially alter observed relative risk estimates. Computations extended to 4\u2010digit level BPA codes revealed elevated risks for a number of more specific diagnoses seen within the larger (3\u2010digit level) groupings defined as eye, ear, respiratory, upper alimentary tract, and other musculoskeletal anomalies. In this large population\u2010based 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\u2010occurrence with orofacial clefts relative to their co\u2010occurrence with any other malformation. These observed patterns tended to be similar for CP and for CLP. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20508","type":"journal-article","created":{"date-parts":[[2004,2,26]],"date-time":"2004-02-26T20:14:19Z","timestamp":1077826459000},"page":"250-256","source":"Crossref","is-referenced-by-count":39,"title":["Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983\u20131997"],"prefix":"10.1002","volume":"125A","author":[{"given":"Gary M.","family":"Shaw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzan L.","family":"Carmichael","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward J.","family":"Lammer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.1991.tb00728.x"},{"key":"e_1_2_5_3_1","first-page":"251","article-title":"Definition of multiple congenital abnormalities","volume":"29","author":"Czeizel A","year":"1981","journal-title":"Acta Morphologica Acad Sci Hung"},{"key":"e_1_2_5_4_1","first-page":"19","article-title":"The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic","volume":"18","author":"Geis N","year":"1981","journal-title":"Cleft Palate J"},{"key":"e_1_2_5_5_1","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2000)037<0596:CHDIAP>2.0.CO;2"},{"key":"e_1_2_5_7_1","first-page":"16","article-title":"Etiology of facial clefts: Prospective evaluation of 428 patients","volume":"25","author":"Jones M","year":"1988","journal-title":"Cleft Palate J"},{"key":"e_1_2_5_8_1","volume-title":"Smith's rcognizable patterns of human malformations","author":"Jones KL","year":"1997"},{"key":"e_1_2_5_9_1","volume-title":"Epidemiology of human reproduction","author":"Kallen B","year":"1988"},{"key":"e_1_2_5_10_1","first-page":"242","article-title":"The epidemiology of orofacial clefts. 2. 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