A familial study of Hallermann–Streiff–François syndrome

نویسندگان

  • E Epée
  • D Beleho
  • AT Bitang
  • VA Njami
  • C Bengondo
  • Côme Ebana Mvogo
چکیده

Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract, and bilateral microphthalmia. The discussion is based on the clinical and genetic aspects, and the challenges in management of this oculo-mandibulo-facial syndrome. The association of congenital cataract, facial dysmorphic features, and microphthalmia, should guide the diagnosis of dysmorphic syndromes such as Hallermann-Streiff-François syndrome.

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عنوان ژورنال:

دوره 10  شماره 

صفحات  -

تاریخ انتشار 2017