{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Epee E"],"pubmed_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."],"journal":["International medical case reports journal"],"pagination":["193-201"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5476608"],"repository":["biostudies-literature"],"pubmed_title":["A familial study of Hallermann-Streiff-Francois syndrome."],"pmcid":["PMC5476608"],"pubmed_authors":["Bitang AT","Bengondo C","Epee E","Beleho D","Njami VA","Ebana Mvogo C"],"additional_accession":[]},"is_claimable":false,"name":"A familial study of Hallermann-Streiff-Francois syndrome.","description":"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.","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-26T10:08:21.143Z","creation":"2019-03-27T02:47:58Z"},"accession":"S-EPMC5476608","cross_references":{"pubmed":["28652825"],"doi":["10.2147/IMCRJ.S114115"]}}