V

 

van den Ende-Gupta sendromu

Kalıtsal - AR

Kraniyosinostozis

Aşağı çekik kaşlar

Göz kapak yapışıklığı

Kulaklar belirgin

Burun komponentlerinde hipoplazi

Yüz asimetrik

Kalın alt dudak

Maksilla hipoplazisi (mikrognati)

Çukur damak

Yarık damak

Maloklüzyon

Larinks ve epiglot anomalileri

İskelet sistemi anomalileri

Serebellum irice

 

  • Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA. Van Den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. American Journal of Medical Genetics, 143A: 2706-2711, 2007

  • Ali R, Almureikhi M, Al-Musaifri F, et al. Further delineation of the van den Ende-Gupta syndrome. American Journal of Medical Genetics, 152A: 3095-3100, 2010.

  • Anastasio N, Ben-Omran T, Teebi, A, et al. Mutations in SCARF2 are responsible for van den Ende-Gupta syndrome. American Journal of Human Genetics, 87: 553-559, 2010

  • Bedeschi MF, Colombo L, Mari F, et al. Unmasking of a recessive SCARF2 mutation by a 22q11.12 de novo deletion in a patient with Van den Ende-Gupta syndrome. Molecular Syndromology, 1: 239-245, 2010