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Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report
M Romanengo1, P Tortori-Donati, M Di Rocco
12nd Department of Pediatrics, G. Gaslini Institute, Genova, Italy.
Clinical Genetics
|October 23, 1997
Abstract:
We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.