{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:34:32Z","timestamp":1791034472017,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,5,8]],"date-time":"2003-05-08T00:00:00Z","timestamp":1052352000000},"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":[[2003,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi\u2010system malformations. Specific entities include the VACTERL and MURCS associations, spondylocostal dysostosis, and spondylothoracic dysostosis. The relative significance of rib anomalies in other lesser known syndromes and associations remains unclear. To document the diagnoses and related defects in patients with rib anomalies as part of broader pattern of anomalies, we retrospectively identified 47 cases from a hospital population, and evaluated specific costal findings and associated birth defects. In our study, fusion was the most common pattern of rib anomaly (72%), followed by bifid (28%) and hypoplastic ribs (26%). Unrecognized patterns of multiple congenital anomalies (MCA) and VACTERL association were the commonest specific diagnoses with a frequency of 30 and 28%, respectively. An associated vertebral defect was found in 72% of the patients. Of those with no vertebral anomaly, the combinations of \u201crib and cardiac defects alone\u201d and \u201crib and renal defects alone\u201d were seen in one\u2010third of the patients (4\/13). Both the occurrence and type of rib anomaly were helpful in defining certain syndromes and enhanced the likelihood of identifying related malformations. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20241","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T15:23:58Z","timestamp":1061911438000},"page":"63-69","source":"Crossref","is-referenced-by-count":43,"title":["Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 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