Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship.
Spondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.
D001006:Anus, Imperforate / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003241:Consanguinity; D005808:Genes, Recessive; D010375:Pedigree; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014564:Urogenital Abnormalities