Header

UZH-Logo

Maintenance Infos

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


Poretti, A; Brehmer, U; Scheer, I; Bernet, V; Boltshauser, E (2008). Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. American Journal of Neuroradiology, 29(6):1090-1091.

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.

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.

Statistics

Citations

Dimensions.ai Metrics
26 citations in Web of Science®
31 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 06 Feb 2009
0 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Radiology, Nuclear Medicine and Imaging
Health Sciences > Neurology (clinical)
Language:English
Date:2008
Deposited On:06 Feb 2009 08:14
Last Modified:02 Nov 2023 02:40
Publisher:American Society of Neuroradiology
ISSN:0195-6108
OA Status:Closed
Publisher DOI:https://doi.org/10.3174/ajnr.A1038
PubMed ID:18356465