ORAL-FACIAL-DIGITAL SYNDROME TYPE-IX IN A PATIENT WITH DANDY-WALKER MALFORMATION

We report a girl with oral, facial, and digital anomalies including mu ltiple alveolar frenula, lobulated tongue with nodules, a posterior cl eft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot , features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diag nosis of OFDS type IX, Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been re ported in OFDS type IX. The frequent: apnoeic spells which occurred im mediately after birth were relieved after cystoperitoneal shunt implan tation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous p arents, and three females, inheritance is probably autosomal recessive .