Journal article

Rhombencephalosynapsis: prenatal imaging and autopsy findings.

F McAuliffe, D Chitayat, W Halliday, S Keating, V Shah, M Fink, O Nevo, G Ryan, P Shannon, S Blaser

Ultrasound in Obstetrics & Gynecology | Wiley | Published : 2008

Abstract

OBJECTIVES: Rhombencephalosynapsis is a rare, but increasingly recognized, brain malformation characterized by congenital fusion of the cerebellar hemispheres and absence of the vermis. Rhombencephalosynapsis is associated with significant developmental delay, seizures and involuntary head movements. We report four cases, with correlation of prenatal and postnatal imaging and autopsy findings. METHODS: Over a 2-year period, four cases of rhombencephalosynapsis were diagnosed in the perinatal period, three in one center and one in another center. The clinical cases were reviewed, and correlation was made between the prenatal and postnatal imaging and autopsy findings where available. RESULTS:..

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University of Melbourne Researchers