Oral-Facial-Digital sendrom X

Çok ender

Kalıtsal - AD?

Retrognati

Yarık damak

Fibula agenezisi

Parmak anomalileri

 

Figuera, L. E., Rivas, F., Cantu, J. M. Oral-facial-digital syndrome with fibular aplasia: a new variant. Clinical Genetics, 44: 190-192, 1993

Taybi H, Lachman R. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias (4th ed.). C Mosby, St.Louis, 1996

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