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  • Title: Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
    Author: Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E.
    Journal: AJNR Am J Neuroradiol; 2008 Jun; 29(6):1090-1. PubMed ID: 18356465.
    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.
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