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AJNR - American Journal of Neuroradiology

Published ahead of print on March 20, 2008
doi: 10.3174/ajnr.A1038

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American Journal of Neuroradiology 29:1090-1091, June-July 2008
© 2008 American Society of Neuroradiology

Case Report
PEDIATRICS

Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

A. Poretti^a, U. Brehmer^b, I. Scheer^b, V. Bernet^c and E. Boltshauser^a

^a Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland
^b Diagnostic Imaging, University Children's Hospital of Zurich, Zurich, Switzerland
^c Department of Neonatology and Intensive Care, University Children's Hospital of Zurich, Zurich, Switzerland

Please address correspondence to Eugen Boltshauser, Department of Pediatric Neurology, University Children's Hospital, Steinwiesstr 75, 8032 Zurich, Switzerland; e-mail: Eugen.Boltshauser{at}kispi.uzh.ch

SUMMARY: 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.