M

 

Martin-Bell sendromu (fragile X, FraX, FRAXA)

Kalıtsal - XLD

Makrosefali

Geniş-köşeli alın

Dar-uzun yüz

Erişkinlerde yanaklar uzun

Lobları az yelken kulaklar

Kulak infeksiyonları

Dar-çukur damak

Maloklüzyon

Dişlerde büyüklük farkları

Mitral kapak prolapsusu

Skolyoz

Eklemler gevşek

Epilepsi

Davranış bozuklukları

Zeka geriliği

 

  • Cornish KM, Turk J, Wilding J, et al. Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach. Journal of Child Psychology & Psychiatry, 45(6):1042-1053, 2004

  • Terracciano A, Chiurazzi P, Neri G. Fragile X syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 15;137C(1):32-37, 2005

  • Van Esch H. The Fragile X premutation: new insights and clinical consequences. European Journal of Medical Genetics, 2006 Jan-Feb;49(1):1-8, 2006

  • Koukoui SD, Chaudhuri A. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Research Reviews, 53(1):27-38, 2007

  • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurology, 6: 45-55, 2007

  • Gothelf D, Furfaro JA, Hoeft F, et al. Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Annals of Neurology, 63: 40-51, 2008

  • Chonchaiya W, Au J, Schneider A, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131: 581-589, 2012