Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.
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.
Romanengo
M
M
2nd Department of Pediatrics, G. Gaslini Institute, Genova, Italy.
Tortori-Donati
P
P
Di Rocco
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D003241:Consanguinity; D004401:Dysarthria / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005684:Gait / Q000235:genetics / Q000502:physiology; D005808:Genes, Recessive / Q000235:genetics / Q000502:physiology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012249:Rhombencephalon / Q000002:abnormalities* / Q000473:pathology