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Usher syndrome associated with a variant of Dandy-Walker malformation.
- Source :
-
Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2010 May 21; Vol. 47 Online, pp. e1-4. Date of Electronic Publication: 2010 May 21. - Publication Year :
- 2010
-
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.<br /> (Copyright 2010, SLACK Incorporated.)
- Subjects :
- Adolescent
Child
Child, Preschool
Consanguinity
Dandy-Walker Syndrome diagnosis
Dandy-Walker Syndrome genetics
Electroretinography
Female
Hearing Loss, Sensorineural diagnosis
Humans
Intellectual Disability diagnosis
Male
Pedigree
Retinitis Pigmentosa diagnosis
Siblings
Tomography, X-Ray Computed
Usher Syndromes diagnosis
Usher Syndromes genetics
Dandy-Walker Syndrome complications
Usher Syndromes complications
Subjects
Details
- Language :
- English
- ISSN :
- 1938-2405
- Volume :
- 47 Online
- Database :
- MEDLINE
- Journal :
- Journal of pediatric ophthalmology and strabismus
- Publication Type :
- Academic Journal
- Accession number :
- 21214164
- Full Text :
- https://doi.org/10.3928/01913913-20100324-01