Literature DB >> 2309760

Spondylocostal dysostosis: dominant type.

P Lorenz1, E Rupprecht.   

Abstract

We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.

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Year:  1990        PMID： 2309760     DOI： 10.1002/ajmg.1320350215

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


  4 in total

1.  Spondylocostal dysostosis.

Authors:  A Kher; M Bhat; K L Ratnam; S Khambadkone; B A Bharucha; S F Irani
Journal:  Indian J Pediatr       Date:  1993 Nov-Dec       Impact factor: 1.967

2.  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

Review 3.  Congenital and idiopathic scoliosis: clinical and genetic aspects.

Authors:  Philip F Giampietro; Robert D Blank; Cathleen L Raggio; Sajid Merchant; F Stig Jacobsen; Thomas Faciszewski; Sanjay K Shukla; Anne R Greenlee; Cory Reynolds; David B Schowalter
Journal:  Clin Med Res       Date:  2003-04

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
  4 in total

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