Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray

CEYLANER S., CEYLANER G., Altun M., Coşkun A., Danişman N.

Genetic Counseling, vol.20, no.2, pp.189-193, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 2
  • Publication Date: 2009
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.189-193
  • Keywords: Anencephaly, Omphalocele, Unilateral absent radial ray, CONGENITAL-ANOMALIES, DEFECTS, ABNORMALITIES, ASSOCIATION, PHOCOMELIA, ACRANIA
  • Lokman Hekim University Affiliated: No

Abstract

We report here a female fetus with anencephaly, omphalocele and unilateral radial aplasia. The combination of two of these three malformations were reported in a number of patients diagnosed as Gershoni-Barush syndrome, ORR phenotype, VATER association, Schisis association, OEIS complex, Schinzel phocomelia syndrome and Acalvaria but they have not been reported all together in the same patient up to date. We hypothesize that, some or all these syndromes given above may be related etiologically.