| Literature DB >> 16530715 |
K R Ong1, S Visram, S McKaig, L A Brueton.
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.Entities:
Mesh：
Year: 2005 PMID： 16530715 DOI： 10.1016/j.ejmg.2005.07.003
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708