Oral-Facial-Digital sendrom XI (Gabrielli sendromu)

Çok ender

Spontan

Yarık damak

İskelet sistemi anomalileri

Güçlü psikomotor yetersizlik

Empty sella bulgusu

 

  • Gabrielli O, Ficcadenti A, Fabrizzi G, et al. Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? American Journal of Medical Genetics, 53: 290-293, 1994

  • Obregon MG, Barreiro CZ. Oral-facial-digital syndrome Gabrielli type: second report. American Journal of Medical Genetics A, 118A: 369-371, 2003

  • Siebert JR. The oral-facial-digital syndromes. Handbook of Clinical Neurology, 87:341-351, 2008

  • Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017