Literature DB >> 2805381

Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.

E Floor1, R O De Jong, J P Fryns, C Smulders, J S Vles.   

Abstract

This report gives a description of a three-generation family in which spondylocostal dysostosis associated with previously unreported neurological complaints occurred in five family members, suggesting autosomal dominant inheritance. A review of the literature is presented and previously unreported neurological complaints, e.g. neurogenic claudicatio, are emphasized.

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Year:  1989        PMID: 2805381     DOI: 10.1111/j.1399-0004.1989.tb03196.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 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

3.  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.  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

5.  Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.

Authors:  Brendan R Southam; Adam P Schumaier; Alvin H Crawford
Journal:  Case Rep Orthop       Date:  2018-03-22
  5 in total

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