Casamassima A C, Morton C C, Nance W E, Kodroff M, Caldwell R, Kelly T, Wolf B
Am J Med Genet. 1981;8(1):117-27. doi: 10.1002/ajmg.1320080114.
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.
