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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.

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.

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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
Language:English
Date:2008
Deposited On:06 Feb 2009 08:14
Last Modified:05 Apr 2016 12:57
Publisher:American Society of Neuroradiology
ISSN:0195-6108
Publisher DOI:10.3174/ajnr.A1038
PubMed ID:18356465
Permanent URL: http://doi.org/10.5167/uzh-12437

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