AJDRAJNR - American Journal of Neuroradiology

Publication Preview: Published March 20, 2008

American Journal of Neuroradiology 2008;29:1090.

This Article
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
ajnr.A1038v1
29/6/1090    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Poretti, A.
Right arrow Articles by Boltshauser, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Poretti, A.
Right arrow Articles by Boltshauser, E.

American Journal of Neuroradiology
DOI 10.3174/ajnr.A1038

PEDIATRICS

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

A. Poretti, U. Brehmer, I. Scheer, V. Bernet and E. Boltshauser

From the Departments of Pediatric Neurology (A.P., E.B.), Diagnostic Imaging (U.B., I.S.), and Neonatology and Intensive Care (V.B.), 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.




This article has been cited by other articles:


Home page
 Am. J. Neuroradiol.Home page
J. Takanashi, H. Tada, H. Ozaki, and A. J. Barkovich
Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI
AJNR Am. J. Neuroradiol., February 1, 2009; 30(2): e22 - e23.
[Full Text] [PDF]


Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X