| Literature DB >> 7246601 |
A C Casamassima, C C Morton, W E Nance, M Kodroff, R Caldwell, T Kelly, B Wolf.
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.Entities:
Mesh:
Year: 1981 PMID: 7246601 DOI: 10.1002/ajmg.1320080114
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299