FAMILIAL INTESTINAL POLYATRESIA SYNDROME

GUNGOR N., BALCI S., TANYEL F. C., GOGUS S.

CLINICAL GENETICS, vol.47, no.5, pp.245-247, 1995 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 5
  • Publication Date: 1995
  • Doi Number: 10.1111/j.1399-0004.1995.tb04304.x
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.245-247
  • Hacettepe University Affiliated: Yes

Abstract

Familial multiple-level intestinal atresia is a rare syndrome with autosomal recessive inheritance. Only a few well-documented families have been reported in the medical literature. In this article two new cases from a consanguineous couple are presented. These are the first reported cases of; Familial Intestinal Polyatresia Syndrome from Turkey. The importance of this report is that the recognition of multiple intestinal atresias as an invariably fatal syndrome will be helpful for genetic counselling and attempts at early prenatal diagnosis for successive pregnancies in these couples.