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

A Poretti; U Brehmer; I Scheer; V Bernet; E Boltshauser

doi:10.3174/ajnr.A1038

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

AJNR Am J Neuroradiol. 2008 Jun;29(6):1090-1. doi: 10.3174/ajnr.A1038. Epub 2008 Mar 20.

Authors

A Poretti¹, U Brehmer, I Scheer, V Bernet, E Boltshauser

Affiliation

¹ Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cerebellar Diseases / congenital*
Cerebellar Diseases / diagnosis*
Fetal Diseases / diagnosis*
Humans
Infant, Newborn
Magnetic Resonance Imaging / methods*
Male
Orofaciodigital Syndromes / diagnosis*
Prenatal Diagnosis*
Syndrome