Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-12437
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.
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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.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic|
|DDC:||610 Medicine & health|
|Deposited On:||06 Feb 2009 09:14|
|Last Modified:||23 Nov 2012 15:45|
|Publisher:||American Society of Neuroradiology|
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