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, cilt.51, sa.1, ss.77-80, 1994 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 1
  • Basım Tarihi: 1994
  • Doi Numarası: 10.1002/ajmg.1320510116
  • Dergi Adı: American journal of medical genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.77-80
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.