{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T09:11:49Z","timestamp":1768036309067,"version":"3.49.0"},"reference-count":33,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T00:00:00Z","timestamp":1195084800000},"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":[[2007,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) is a common birth defect that can be subdivided into several different types depending on the anatomical structures affected. Several studies have demonstrated that right\u2010sided CDH (R\u2010CDH) and left\u2010sided CDH (L\u2010CDH) in humans are associated with different clinical presentations and outcomes. We hypothesized that R\u2010CDH and L\u2010CDH are phenotypically and pathogenically distinct, and that the frequency of associated anomalies would differ among patients with R\u2010CDH compared to patients with L\u2010CDH. Using population\u2010based data from ongoing studies in the California Birth Defects Monitoring Program (CBDMP), we compared 146 CDH cases, 38 with R\u2010CDH (26%) and 108 with L\u2010CDH (74%). The frequencies of atrial septal defect (1\/38 R\u2010CDH and 20\/108 L\u2010CDH cases; <jats:italic>P<\/jats:italic>\u2009=\u20090.015), bilateral pulmonary hypoplasia (22\/108 L\u2010CDH cases and 15\/38 R\u2010CDH cases; <jats:italic>P<\/jats:italic>\u2009=\u20090.029), abnormal skull or facial shape (17\/108 L\u2010CDH patients and 1\/38 R\u2010CDH cases; <jats:italic>P<\/jats:italic>\u2009=\u20090.043), assorted digital anomalies excluding syndactyly, polydactyly or absence of a digit (13\/108 L\u2010CDH patients and 0\/38 R\u2010CDH patients; <jats:italic>P<\/jats:italic>\u2009=\u20090.021) and assorted limb anomalies excluding limb reduction defects (18\/108 L\u2010CDH patients and 0.38 R\u2010CDH patients; <jats:italic>P<\/jats:italic>\u2009=\u20090.004) all showed a statistically significant difference in frequency between R\u2010 and L\u2010CDH patients. This descriptive epidemiological study using newborn surveillance data represents the largest comparison of right and left\u2010sided CDH patients so far performed. Several anomalies as listed above were noted to be different in frequency between R\u2010 and L\u2010CDH patients, although the interpretation of the significant variability in the frequency of these anomalies is not yet established and the findings require replication. Birth defects monitoring programs can provide the interface for epidemiology and clinical genetics, which in this case, may generate hypotheses to establish the pathogenesis of CDH laterality. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32100","type":"journal-article","created":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T17:20:53Z","timestamp":1195147253000},"page":"3127-3136","source":"Crossref","is-referenced-by-count":28,"title":["Population\u2010based analysis of left\u2010 and right\u2010sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies"],"prefix":"10.1002","volume":"143A","author":[{"given":"Anne M.","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Warmerdam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela 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