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Gorlin-Chaudhry-Moss sendromu (Fontaine progeroid sendrom)

Kalıtsal - AD

Kraniyofasiyal dizostoz (suturalarda erken kapanma)

Brakisefali

Kafa kemiklerinde hipoplazi

Mikroftalmi

Küçük kulak kepçesi

Yüz hipoplazisi (orta bölüm)

Dişlerde hipoplazi

Dişlerde biçim bozukluğu

Hipodonti

Oligodonti

Maloklüzyon

Çukur ve dar damak

Hipertrikoz

Herniler

Genital hipoplazi (labium major hipoplazisi)

Zeka geriliği

 

  • Ippel PF, Gorlin RJ, Lenz W, et al. Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. American Journal of Medical Genetics, 44(4):518-522, 1992

  • Aravena T, Passalacqua C, Pizarro O, Aracena M. Two sisters resembling Gorlin-Chaudhry-Moss syndrome. American Journal of Medical Genetics A, 155A(10): 2552-2555, 2011

  • Rosti RO, Karaer K, Karaman B, et al. Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype. American Journal of Medical Genetics A, 161A(7):1737-1742, 2013