Usher syndrome associated with a variant of Dandy-Walker malformation.
Journal of pediatric ophthalmology and strabismus, cilt.47 Online, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Online
- Basım Tarihi: 2010
- Doi Numarası: 10.3928/01913913-20100324-01
- Dergi Adı: Journal of pediatric ophthalmology and strabismus
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. Copyright 2010, SLACK Incorporated.