biostudies-literatureUnknown10Epee EHallermann-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.International medical case reports journal193-201https://www.ebi.ac.uk/biostudies/studies/S-EPMC5476608biostudies-literatureA familial study of Hallermann-Streiff-Francois syndrome.PMC5476608Bitang ATBengondo CEpee EBeleho DNjami VAEbana Mvogo CfalseA familial study of Hallermann-Streiff-Francois syndrome.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.2017-01-01T00:00:00Z20172025-04-26T10:08:21.143Z2019-03-27T02:47:58ZS-EPMC54766082865282510.2147/IMCRJ.S114115