Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case

Ertekin V., Selimoglu M., Selimoglu E.

ANNALES DE GENETIQUE, cilt.47, sa.4, ss.387-391, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 4
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.anngen.2004.03.005
  • Dergi Adı: ANNALES DE GENETIQUE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.387-391
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius. (C) 2004 Elsevier SAS. All rights reserved.