Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
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ABSTRACT:
SUBMITTER: Poretti A
PROVIDER: S-EPMC8118817 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
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Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
Poretti A A Brehmer U U Scheer I I Bernet V V Boltshauser E E
AJNR. American journal of neuroradiology 20080320 6
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 hypothala ...[more]
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