Oral-facial digital syndrome type 1.
The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology in addition to cleft palate and multiple masses on the tongue which resulted in feeding problems. Surgical intervention was done. Molecular analysis revealed absence of OFD gene.
Akdeniz University School of Medicine Department of Pediatrics, Antalya, Turkey. emihci@akdeniz.edu.tr
Ercan
E
Mihci
Sukran
S
Tacoy
Gulay
G
Ozbilim
Brunella
B
Franco
D006801:Humans; D007223:Infant; D008297:Male; D009958:Orofaciodigital Syndromes / Q000235:genetics / Q000473:pathology*; D011506:Proteins / Q000235:genetics
C115130:OFD1 protein, human; D011506:Proteins