C

 

Carvajal Naxos sendromu

Kalıtsal – AD

Hipodonti

Oligodonti

Mine displazisi

Gingivitis ve dişeti çekilmeleri

Kardiyovasküler patolojiler (kardiyomyopati, ventrikül fibrozisi)

Ansızın ölüm (kardiyak patoloji nedenli)

Palmoplantar keratoderma

Deride hiperkeratoz (eritrokeratoderma)

İnce-kıvırcık saçlar

 

  • 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, Dent. Res. 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