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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-16530715
ABSTRACT
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.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Twins, Monozygotic / Amelogenesis Imperfecta / Hearing Loss, Sensorineural / Nails, Malformed Limits: Child / Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2006 Document type: Article Affiliation country: Reino Unido
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Collection: 01-internacional Database: MEDLINE Main subject: Twins, Monozygotic / Amelogenesis Imperfecta / Hearing Loss, Sensorineural / Nails, Malformed Limits: Child / Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2006 Document type: Article Affiliation country: Reino Unido
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