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

ABSTRACT: 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.

SUBMITTER: Poretti A 

PROVIDER: S-EPMC8118817 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature