Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report
- 1 September 1997
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 52 (3), 184-186
- https://doi.org/10.1111/j.1399-0004.1997.tb02542.x
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.Keywords
This publication has 5 references indexed in Scilit:
- MRI and Clinical Findings in RhombencephalosynapsisJournal of Computer Assisted Tomography, 1993
- Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei and cerebellar hemispheresActa Neuropathologica, 1987
- Rhombencephalosynapsis: a Viennese Malformation?Developmental Medicine and Child Neurology, 1982
- Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomaliesActa Neuropathologica, 1982
- Congenital fusion of the thalami (atresia of the third ventricle) and associated anomalies in a 6 months old infantActa Neuropathologica, 1969