title: Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
abstract: A mentally retarded girl with congenital blepharophimosis, ptosis, hypoplastic teeth and other traits consistent with Ohdo syndrome is reported. Her mother had had surgery for blepharophimosis as a small child, but did not fulfil the other criteria for Ohdo syndrome. The mother had also been abusing alcohol prior to the pregnancy. Differential diagnoses and possible modes of inheritance are discussed.
authors.affiliation: Section for Child Neurology Department of Pediatrics, Rikshospitalet, Oslo, Norway.
authors.forename: M
authors.initials: M
authors.lastname: Rasmussen
authors.forename: P
authors.initials: P
authors.lastname: Strømme
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D016569:Blepharophimosis / Q000150:complications*; D001763:Blepharoptosis / Q000150:complications / Q000151:congenital*; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications / Q000235:genetics