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Carey-Fineman-Ziter sendromu

Kalıtsal - AR

Fiziksel gelişme geriliği

Mikrosefali ya da Makrosefali

Asimetrik kafatası

Boyun ince

Yayvan burun

Ptozis

Möbius sequence

Oftalmopleji

Okülomotor sinir felci

Yüz kasları hipoplazisi/felci

Pierre Robin sequence

Ağız açıklığı sınırlı

Retrognati

Mikrognati

Mandibula hipoplazisi

Yarık damak

Yutma güçlüğü

Reflü

İnmemiş testis

Eklemlerde kontraktür

Skolyoz

Parmaklarda kontraktür

Myopati (kaslarda atrofi)

Hipotoni

Motor gelişme geriliği

  • Carey JC. The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis. American Journal of Medical Genetics, 127A: 294-297, 2004

  • Verloes A, Bitoun P, Heuskin A, et al. Moebius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. American Journal of Medical Genetics, 127A: 277-287, 2004

  • Pasetti M, Mazzoleni F, Novelli G, et al. Temporomandibular joint ankylosis as part of the clinical spectrum of Cary-Fineman-Ziter syndrome? American Journal of Medical Genetics, 170A: 2191-2195, 2016

  • Di Gioia SA, Connors S, Matsunami N, et al A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications, 8: 16077, 2017