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A familial study of Hallermann–Streiff–François syndrome

Authors Epée E, Beleho D, Bitang AT, Njami VA, Bengondo C, Ebana Mvogo C

Received 2 June 2016

Accepted for publication 2 February 2017

Published 10 June 2017 Volume 2017:10 Pages 193—201


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser

E Epée,1 D Beleho,2 AT Bitang,3 VA Njami,4 C Bengondo,5 Côme Ebana Mvogo1

1Ophthalmology Department, Yaoundé University Teaching Hospital, Yaoundé, Cameroon; 2Ophthalmology Department, Okola District Hospital, Okola, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 4Higher Institute of Health Sciences, Université des Montagnes, Bangangté, Cameroon; 5Stomatology Department, Yaoundé University Teaching Hospital, Yaoundé, Cameroon

Abstract: 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.

Keywords: Hallermann–Streiff–François syndrome, familial cataract, dysmorphic features, rare, Cameroon

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