Literature DB >> 7246601

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.   

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.

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Year:  1981        PMID: 7246601     DOI: 10.1002/ajmg.1320080114

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  Cerebrofaciothoracic dysplasia: a new family.

Authors:  N Philip; A Guala; A Moncla; M Monlouis; S Aymé; F Giraud
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Spondylocostal dysostosis.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

3.  A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Authors:  P D Turnpenny; M P Bulman; T M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; S Ellard
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Authors:  P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

Review 5.  Complete absence of external genitalia in limb-body wall complex: two cases.

Authors:  A Litwin; P Merlob; M Grunebaum
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

6.  Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Authors:  P D Turnpenny; R J Thwaites; F N Boulos
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

7.  Congenital hemangioma in spondylocostal dysostosis: a novel association.

Authors:  Victor Michael Salinas-Torres
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896

  7 in total

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