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

نویسندگان

  • A Poretti
  • U Brehmer
  • I Scheer
  • V Bernet
  • E Boltshauser
چکیده

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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عنوان ژورنال:
  • AJNR. American journal of neuroradiology

دوره 29 6  شماره 

صفحات  -

تاریخ انتشار 2008