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


Ertekin V. , Selimoglu M., Selimoglu E.

ANNALES DE GENETIQUE, cilt.47, ss.387-391, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 47 Konu: 4
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.anngen.2004.03.005
  • Dergi Adı: ANNALES DE GENETIQUE
  • Sayfa Sayıları: ss.387-391

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.