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Heimler Sendromu

 

Heimler sendromu 1:

Kalıtsal - AR

İşitme sorunları

Mine hipoplazisi

Amelogenesis imperfecta

Tüm sürekli dişlerin etkilenmesi

Tırnak anomalileri

 

Heimler sendromu 2:

Kalıtsal - AR

İşitme sorunları

Sürekli dişlerde mine hipoplazisi

Altçene kanin sonrası dişlerde hipoplazi

Üstçene 2. Ve 3. molarlarda hipoplazi

Üstçene molarlarda taurodontism

Tırnak anomalileri

 

  • Heimler A, Fox JE, Hershey JE, Crespi P. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs.  American Journal of Medical Genetics, 39: 192-195, 1991

  • Tischkowitz M, Clenaghan C, Davies S. Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome. Journal of Medical Genetics, 36: 941-943, 1999

  • Pollak C, Floy M, Say B. Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. Clinical Dysmorphology, 12: 55-58, 2003

  • Ong KR, Visram S, McKaig S, Brueton LA. Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. European Journal of Medical Genetics, 49: 187-193, 2006

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Ratbi I, Falkenberg KD, Sommen M, et al. Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6. American Journal of Human Genetics, 97: 535-545, 2015