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Usher syndrome associated with a variant of Dandy-Walker malformation.
J Pediatr Ophthalmol Strabismus. 2010 May 21; 47 Online:e1-4.JP

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.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Simsek T
Ulucanlar Training and Research Eye Hospital, Ankara, Turkey.
Ozdamar Y
No affiliation info available
Simsek E
No affiliation info available
Men G
No affiliation info available

MeSH

AdolescentChildChild, PreschoolConsanguinityDandy-Walker SyndromeElectroretinographyFemaleHearing Loss, SensorineuralHumansIntellectual DisabilityMalePedigreeRetinitis PigmentosaSiblingsTomography, X-Ray ComputedUsher Syndromes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21214164

Citation

Simsek, Tulay, et al. "Usher Syndrome Associated With a Variant of Dandy-Walker Malformation." Journal of Pediatric Ophthalmology and Strabismus, vol. 47 Online, 2010, pp. e1-4.
Simsek T, Ozdamar Y, Simsek E, et al. Usher syndrome associated with a variant of Dandy-Walker malformation. J Pediatr Ophthalmol Strabismus. 2010;47 Online:e1-4.
Simsek, T., Ozdamar, Y., Simsek, E., & Men, G. (2010). Usher syndrome associated with a variant of Dandy-Walker malformation. Journal of Pediatric Ophthalmology and Strabismus, 47 Online, e1-4. https://doi.org/10.3928/01913913-20100324-01
Simsek T, et al. Usher Syndrome Associated With a Variant of Dandy-Walker Malformation. J Pediatr Ophthalmol Strabismus. 2010 May 21;47 Online:e1-4. PubMed PMID: 21214164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Usher syndrome associated with a variant of Dandy-Walker malformation. AU - Simsek,Tulay, AU - Ozdamar,Yasemin, AU - Simsek,Enver, AU - Men,Gamze, Y1 - 2010/05/21/ PY - 2008/10/10/received PY - 2009/01/23/accepted PY - 2011/1/11/entrez PY - 2011/1/11/pubmed PY - 2013/9/26/medline SP - e1 EP - 4 JF - Journal of pediatric ophthalmology and strabismus JO - J Pediatr Ophthalmol Strabismus VL - 47 Online N2 - 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. SN - 1938-2405 UR - https://www.unboundmedicine.com/medline/citation/21214164/Usher_syndrome_associated_with_a_variant_of_Dandy_Walker_malformation_ L2 - http://www.diseaseinfosearch.org/result/2112 DB - PRIME DP - Unbound Medicine ER -