Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Smith, R J; Berlin, C I; Hejtmancik, J F; Keats, B J; Kimberling, W J; Lewis, R A; Möller, C G; Pelias, M Z; Tranebjaerg, L

Smith, R J; Berlin, C I; Hejtmancik, J F; Keats, B J; Kimberling, W J; Lewis, R A; Möller, C G; Pelias, M Z; Tranebjaerg, L.

Afiliação

Smith RJ; Department of Otolaryngology, University of Iowa, Iowa City 52242.

Am J Med Genet ; 50(1): 32-8, 1994 Mar 01.

Article em En | MEDLINE | ID: mdl-8160750

ABSTRACT

ABSTRACT

The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

Assuntos

Perda Auditiva Neurossensorial/congênito; Perda Auditiva Neurossensorial/diagnóstico; Retinose Pigmentar/diagnóstico; Doenças Vestibulares/diagnóstico; Diagnóstico Diferencial; Eletrorretinografia; Perda Auditiva Neurossensorial/genética; Humanos; Oftalmoscopia; Retinose Pigmentar/genética; Inquéritos e Questionários; Síndrome; Doenças Vestibulares/genética; Testes de Função Vestibular

Buscar no Google

Imprimir

XML

PubMed Links

Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vestibulares / Retinose Pigmentar / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 1994 Tipo de documento: Article

Buscar no Google

Imprimir

XML

PubMed Links