C

 

Carvajal-Naxos sendromu (DCWHKTA sendromu)

Kalıtsal - AD

Eritemli gingiva

Dişeti çekilmeleri

Değişik dişlerin agenezi (hipodonti/oligodonti)

Mide displazisi

Diş çürükleri

Restriktif kardiyomyopati

Aritmilere bağlı ansızın ölüm

Kalp ileti kusurları

Deride hiperkeratoz-çatlaklar

Kaşıntı

Palmoplantar hiperkeratoz

Yünsü kıl yapısı

 

• Norgett EE, Lucke TW, Bowers B, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter) Journal of Investigative Dermatology, 126: 1651-1654, 2006

• Chalabreysse L, Senni F, Bruyere P, et al. A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations. Journal of Dental Research, 90: 58-64, 2011

• Boule S, Fressart V, Laux D, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. International Journal of Cardiology, 161: 50-52, 2012

• Boyden LM, Kam CY, Hernandez-Martin A, et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Human Molecular Genetics, 25: 348-357, 2016