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

doi:10.1002/ajmg.1320080114

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

69 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 language	English (US)
Pages (from-to)	117-127
Number of pages	11
Journal	Unknown Journal
Volume	8
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320080114
State	Published - 1981

ASJC Scopus subject areas

Genetics(clinical)

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

author = "Casamassima, {A. C.} and Morton, {C. C.} and Nance, {W. E.} and M. Kodroff and R. Caldwell and T. Kelly and B. Wolf",

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AU - Casamassima, A. C.

AU - Morton, C. C.

AU - Nance, W. E.

AU - Kodroff, M.

AU - Caldwell, R.

AU - Kelly, T.

AU - Wolf, B.

PY - 1981

Y1 - 1981

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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