Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.

Research paper by A A Poretti, U U Brehmer, I I Scheer, V V Bernet, E E Boltshauser

Indexed on: 22 Mar '08Published on: 22 Mar '08Published in: AJNR. American journal of neuroradiology


We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible.