C

 

Crisponi sendromu

Kalıtsal - AR

Boyun kısa

Boyun kasları katı (hipertoni)

Uyurken gözler yarı-açık

Kronik keratit

Burun yayvan

Filtrum uzun

Mikrognati

Retrognati

Yüz kaslarında güçlü kasılmalar

Fasiyal trismus

Mikrostomi

Çukur damak

Aşırı salya akması

Çürük dişler

Dispne

Apne atakları

Skolyoz

Kifoz

Bilek ve parmak anomalileri

Soğukta aşırı terleme

Sıcakta terleme azlığı

Yaygın kramp atakları

Opsitotonus atakları

Ağrı duyusunda azalma

Hipertermia atakları

 

  • Dagoneau N, Bellais S, Blanchet P, Sarda, et al. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. American Journal of Human Genetics, 80: 966-970, 2007

  • Hahn AF, Waaler PE, Kvistad PH, et al. Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases. Journal of Neurological Sciences, 293: 68-75, 2010

  • Herholz J, Meloni A, Marongiu M, et al. Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. European Jornal of Human Genetics, 19: 525-533, 2011

  • Tüysüz B, Kasapçopur O, Yalçınkaya C, et al. Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. Brain & Development, 35: 596-601, 2013