title: Usher syndrome associated with a variant of Dandy-Walker malformation.
abstract: Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome.
authors.affiliation: Ulucanlar Training and Research Eye Hospital, Ankara, Turkey.
authors.forename: Tulay
authors.initials: T
authors.lastname: Simsek
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Ozdamar
authors.forename: Enver
authors.initials: E
authors.lastname: Simsek
authors.forename: Gamze
authors.initials: G
authors.lastname: Men
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004596:Electroretinography; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D035781:Siblings; D014057:Tomography, X-Ray Computed; D052245:Usher Syndromes / Q000150:complications* / Q000175:diagnosis / Q000235:genetics