Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

BASARAN S., YUKSEL A., ERMIS H., KUSEYRI F., AGAN M. R., YUKSELAPAK M.

American journal of medical genetics, vol.51, no.1, pp.77-80, 1994 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 1
  • Publication Date: 1994
  • Doi Number: 10.1002/ajmg.1320510116
  • Journal Name: American journal of medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.77-80
  • Istanbul University Affiliated: Yes

Abstract

We report on a family with two sons affected with tetra-amelia, cleft lip-palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified. (C) 1994 WiIey-Liss, Inc.