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

Ertekin V., Selimoglu M., Selimoglu E.

ANNALES DE GENETIQUE, vol.47, no.4, pp.387-391, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 4
  • Publication Date: 2004
  • Doi Number: 10.1016/j.anngen.2004.03.005
  • Journal Name: ANNALES DE GENETIQUE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.387-391
  • Eskisehir Osmangazi University Affiliated: No

Abstract

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.