Review
doi: 10.1016/j.ejmg.2005.07.003.
Epub 2005 Aug 19.
Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls
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- PMID: 16530715
- DOI: 10.1016/j.ejmg.2005.07.003
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Review
Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls
Eur J Med Genet.
2006 Mar-Apr.
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.
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