Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

Abstract

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.