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 the patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.
|Original language||English (US)|
|Number of pages||11|
|State||Published - 1981|
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