Oral-Facial-Digital sendrom IX

Çok ender

Kalıtsal - AR

Hipertelorizm

Strabismus

Geniş ve yarık burun ucu

Üst dudak orta çizgi yarığı

Yarık damak

Dilde nodüller

Dilde hamartomatöz oluşum

Çok sayıda frenulum

Hipodonti

Parmak anomalileri

  • Nevin NC, Silvestri J, Kernohan DC, Hutchinson WM. Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX: a further case report. American Journal of Medical Genetics, 51: 228-231, 1994

  • Erickson RP, Bodensteiner JB. Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. American Journal of Medical Genetics A, 143A: 3309-3313, 2007

  • 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