S

 

Schilbach-Rott sendromu

Kalıtsal - AD

Mikrosefali

Hipertelorizm

Göz kapaklarında yapışıklık

Kulaklarda hipopazi/dönüklük

Burun belirgin

Asimetrik yüz

Ağız küçük

Yarık damak

Mikrognati

Uvula bifida

İnmemiş testisler

Parmak anomalileri

Zeka geriliği

 

  • Joss SK, Paterson W, Donaldson MDC, Tolmie JL. Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome. American Journal of Medical Genetics, 113: 105-107, 2002

  • Becerra-Solano LE, Casillas-Avila MP, Diaz-Rodriguez M, et al. Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait. Genetic Counseling, 18: 317-323, 2007

  • de Carvalho DR, Rossi NF, Schellini S, et al. Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. American Journal of Medical Genetics, 146A: 2134-2137, 2008

  • Shkalim V, Barış HN, Ga, G, et al. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. American Journal of Medical Genetics,149A: 2700-2705, 2009