title: Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.
abstract: Rib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi-system 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 "rib and cardiac defects alone" and "rib and renal defects alone" were seen in one-third 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Bangkok, Thailand.
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.forename: Gretchen
authors.initials: G
authors.lastname: Schneider
authors.forename: Jane A
authors.initials: JA
authors.lastname: Evans
authors.forename: Bruce R
authors.initials: BR
authors.lastname: Korf
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011859:Radiography; D012189:Retrospective Studies; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging