title: A case with blepharophimosis resembling Ohdo syndrome.
abstract: Another possible sporadic case of the Ohdo blepharophimosis syndrome is described and compared with the seven patients previously reported. It can be considered a distinctive syndrome showing blepharophimosis, ptosis, dental hypoplasia, mental retardation and deafness. This case helps to define the spectrum of the phenotypic anomalies.
authors.affiliation: Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: Maat-Kievit
authors.forename: P J
authors.initials: PJ
authors.lastname: Milla
authors.forename: J E
authors.initials: JE
authors.lastname: Collins
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D016569:Blepharophimosis / Q000503:physiopathology*; D001763:Blepharoptosis / Q000503:physiopathology; D002648:Child; D003638:Deafness / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000503:physiopathology