Literature DB >> 9781915

Congenital heart defects in Sotos syndrome.

D R Noreau1, J Al-Ata, L Jutras, A S Teebi.   

Abstract

Sotos syndrome is a relatively common overgrowth syndrome with characteristic physiognomy. We report on 3 patients with congenital heart defects out of 14 Sotos syndrome patients studied clinically and or by echocardiography. Review showed another 17 patients with variable cardiac defects, mostly closure defects, making an overall incidence of approximately 8%.

Entities:  

Mesh：

Year:  1998        PMID： 9781915     DOI： 10.1002/(sici)1096-8628(19981002)79:4<327::aid-ajmg16>3.0.co;2-t

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


  2 in total

1.  NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Authors:  Jenny Douglas; Sandra Hanks; I Karen Temple; Sally Davies; Alexandra Murray; Meena Upadhyaya; Susan Tomkins; Helen E Hughes; Trevor R P Cole; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2002-12-02       Impact factor: 11.025

2.  Camptodactyly in Sotos syndrome.

Authors:  S Danda; M C Mathew; S M Bain; S Palnok
Journal:  Indian J Hum Genet       Date:  2007-05
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.