Oral-facial-digital sendrom tip III (orofaciodigital sendrom 3, OFD III, Sugarman sendromu)

Kalıtsal - AR

Çok ender

Hipertelorizm

Uvula bifida

Dilde nodüller

Yarık dil

Mikrodonti

Süpernümerer dişler

İskelet sistemi anomalileri

 

Sugarman GI, Katakia M, Menkes JH. See-saw winking in a familial oral-facial-digital syndrome. Clinical Genetics, 2: 248-254, 1971

Smith RA, Gardner-Medwin D. Orofaciodigital syndrome type III in two sibs. Journal of Medical Genetics, 30: 870-872, 1993

Toriello HV. Oral-facial-digital syndromes. Clinical Dysmorphology, 2: 95-105, 1993

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