Literature DB >> 2624275

Campomelic syndrome: manifestations in a 20 week fetus and case history of a 5 year old child.

Y Gillerot1, C A Vanheck, M Foulon, A Podevain, L Koulischer.   

Abstract

We report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.

Entities:  

Mesh：

Year:  1989        PMID： 2624275     DOI： 10.1002/ajmg.1320340428

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


  2 in total

1.  Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Authors:  I D Young; J M Zuccollo; E L Maltby; N J Broderick
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

2.  Mild Campomelic Dysplasia: Report on a Case and Review.

Authors:  S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
Journal:  Mol Syndromol       Date:  2011-01-10
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.