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

A. Poretti, U. Brehmer, I. Scheer, V. Bernet, Eugen Boltshauser

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1090-1091
Number of pages2
JournalAmerican Journal of Neuroradiology
Volume29
Issue number6
DOIs
StatePublished - Jun 2008

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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