Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.

Ong, K R; Visram, S; McKaig, S; Brueton, L A

Ong, K R; Visram, S; McKaig, S; Brueton, L A.

Afiliación

Ong KR; Department of Clinical Genetics, West Midlands Regional Genetics Service, UK, Metchley Park Road, Edgbaston, B15 2TG Birmingham, West Midlands, UK. kong@picr.man.ac.uk

Eur J Med Genet ; 49(2): 187-93, 2006.

Article en En | MEDLINE | ID: mdl-16530715

RESUMEN

We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. This constellation of findings has been previously described in three case reports as Heimler syndrome, first documented in 1991.

Asunto(s)

Amelogénesis Imperfecta/diagnóstico; Pérdida Auditiva Sensorineural/diagnóstico; Uñas Malformadas/diagnóstico; Gemelos Monocigóticos; Niño; Preescolar; Femenino; Humanos; Síndrome

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Gemelos Monocigóticos / Amelogénesis Imperfecta / Pérdida Auditiva Sensorineural / Uñas Malformadas Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2006 Tipo del documento: Article Pais de publicación: Países Bajos

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