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.

Nonneural Congenital Abnormalities Concurring with Myelomeningocele: Report of 17 Cases and Review of Current Theories

“…It has been reported that rib fusion is the most common type of rib anomaly in association with other congenital malformations [23]. The fact that an NTD develops in the first 4 weeks and rib development begins not sooner than week 9 of gestation [24] explains why we only found a rib missing in 390 patients of MMC and not rib fusion.…”

Bifid ribs: a comprehensive review

“…It has been established that the specific type of rib anomaly can help identify and define associated syndromes or malformations, which will in turn provide the patient with a complete and well-rounded diagnosis. [1] Although bifid rib neither gives rise to severe clinical afflictions nor affects a great proportion of the population, its consideration especially in perspective of associated diseases hasdemonstrated preventative advantages. Early detection and therefore, prevention, is particularly vital in the pediatric patient population as it can possibly reduce the severity of longterm complications of an associated syndrome.…”

“…[20] The diseases that have been reported include, but are not limited to: congenital bone dysplasia, acquired metabolic diseases, iatrogenic conditions, neoplasms, vertebral segmentation, spondylocostaland spondylothoracicdysostosis, and thoracic outlet syndrome. [1,20] Other studies have identified additional diseases/malformations that can be associated with bifid rib specifically: deficient lateral clavicle, mandibular hypoplasia, macrocephaly, mental retardation, chest wall tumor, and costal fracture. [4,24] Unlike other rib anomalies, bifid rib usually occurs in the absence of vertebral defects.…”

Skeletal and Cranio-Facial Signs in Gorlin Syndrome from Ancient Egypt to the Modern Age: Sphenoid Asymmetry in a Patient with a Novel PTCH1 Mutation

“…Non-random associations of birth defects that comprise bifid ribs are VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, renal and/or radial anomalies, limb defects), MURCS (Müllerian duct aplasia, renal aplasia, and cervico-thoracic somite dysplasia) [15]. A single bifid rib is most commonly a normal incidental finding and may be detected as a palpable chest wall mass; it is usually considered a normal anatomic variant and it's often asymptomatic.…”