M

 

Münke sendromu (Muenke kraniyosinostozis)

Kalıtsal - AD / Spontan

FGFR3 geni mutasyonu

Sutura coronalis sinostozisi (uni/bilateral)

Brakisefali

Turribrakisefali

Yonca yaprağı kafatası

Hipertelorizm

Düz-basık alın

Kaş çıkıntıları belirgin

Ptozis

İşitme sorunları

Yüz asimetrik (unilateral sinostozda çok belirgin)

Yüz orta bölüm hipoplazisi

Çukur damak

Maloklüzyon

Psikomotor gerilik

Yüksük görünümünde orta parmak

  • Renier D, El-Ghouzzi V, Bonaventure J, et al. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. Journal of Neurosurgery, 2:631–636, 2000

  • Kress W, Collmann H, Busse M, et al. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics & Cell Genetics,  91:134–137, 2000

  • de Jong T, Bannink N, Bredero-Boelhouwer HH, et al. Long-term functional outcome in 167 patients with syndromic Craniosynostosis; defining a syndrome-specific risk profile. Journal of Plastic, Reconstructive & Aesthetic Surgery, 63:1635–1641, 2010

  • Abdel-Salam GM, Flores-Sarnat L., El-Ruby MO, et al. Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: an expansion of the phenotype. American Journal of Medical Genetics A, 155A: 207-214, 2011

  • Doumit GD, Sidaoui J, Meisler E, Papay FA. Squamosal suture Craniosynostosis in muenke syndrome. Journal of Craniofacial Surgery, 25:429–431, 2014

  • Kruszka P, Addissie YA, Yarnell CM, et al. Muenke syndrome: An international multicenter natural history study. American Journal of Medical Genetics A, 170A:918–929, 2016

  • Wang JC, Nagy L, Demke JC. Syndromic Craniosynostosis. Facial Plastic Surgery Clinics of North America, 24(4):531-543, 2016