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

A. C. Casamassima, C. C. Morton, W. E. Nance, M. Kodroff, R. Caldwell, T. Kelly, B. Wolf

Research output: Contribution to journalArticlepeer-review

54 Scopus citations

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 the patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.

Original languageEnglish (US)
Pages (from-to)117-127
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume8
Issue number1
DOIs
StatePublished - Sep 11 1981

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship'. Together they form a unique fingerprint.

Cite this