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- Title
A familial study of Hallermann-Streiff-François syndrome.
- Authors
Epée, E.; Beleho, D.; Bitang, A. T.; Njami, V. A.; Bengondo, C.; Mvogo, Côme Ebana
- 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.
- Subjects
HALLERMANN syndrome; GENETIC disorders; PHENOTYPES; FACIAL abnormalities; MICROPHTHALMIA
- Publication
International Medical Case Reports Journal, 2017, Vol 10, p193
- ISSN
1179-142X
- Publication type
Article
- DOI
10.2147/IMCRJ.S114115