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

European Journal of Medical Genetics
K R OngL 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.

References

Jul 1, 1975·Archives of Dermatology·L L Bushkell, R J Gorlin
May 1, 1991·American Journal of Medical Genetics·A HeimlerP Crespi
Jan 26, 1967·The New England Journal of Medicine·R S Bart, R E Pumphrey
Mar 6, 2003·Oral Diseases·M J AldredP J M Crawford

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Citations

Aug 27, 2009·Case Reports in Medicine·Maria Rita Bongiorno, Mario Aricò
Nov 1, 2015·International Journal of Dermatology·Shailendra Kapoor
Oct 2, 2013·Clinics in Dermatology·Martin N Zaiac, Ashley Walker
Sep 22, 2015·American Journal of Human Genetics·Ilham RatbiGuy Van Camp
Jun 16, 2016·European Journal of Human Genetics : EJHG·Claire E L SmithChris F Inglehearn
Apr 21, 2018·Ophthalmic Genetics·Nutsuchar WangtiraumnuayAlex V Levin
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Ai Peng TanBruno Passebon Soares
Dec 14, 2019·Orphanet Journal of Rare Diseases·Feng-Juan GaoJi-Hong Wu
Mar 4, 2011·Ophthalmic Genetics·Luiz H LimaRichard F Spaide
Sep 1, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Malena Daich VarelaRobert B Hufnagel
Jan 6, 2021·Genes·Tung-Lin LeeChen-Chi Wu
May 7, 2021·Ophthalmic Genetics·Dorien HerijgersIngele Casteels

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