Literature DB >> 6420292

Spondylo-costal dysplasia. A further report--review of 14 cases.

K Kozlowski.   

Abstract

Fourteen patients with spondylo-costal dysplasia were analysed. 3 of them presented without obvious associated anomalies "pure" spondylo-costal dysplasias; 2 had several components consistent with Vater (Vacterl)-Association; 2 showed malformations which are often encountered in Vater (Vacterl)-Association; 4 presented with minor malformations; 3 had major associated malformations rarely seen in Vater (Vacterl)-Association. Thoracic spine and costal malsegmentation can be sporadically observed in other "errors in septation complex" (axial mesodermal dysplasia) including severe myelomeningocoele and diastematomyelia.

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Year:  1984        PMID: 6420292     DOI: 10.1055/s-2008-1052954

Source DB:  PubMed          Journal:  Rofo        ISSN: 1438-9010


  3 in total

1.  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

2.  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

3.  Pathogenesis of diastematomyelia: can a surgical model in the chick embryo give some clues about the human malformation?

Authors:  B Rilliet; J Schowing; J Berney
Journal:  Childs Nerv Syst       Date:  1992-09       Impact factor: 1.475

  3 in total

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