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  • Title: Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.
    Author: Romanengo M, Tortori-Donati P, Di Rocco M.
    Journal: Clin Genet; 1997 Sep; 52(3):184-6. PubMed ID: 9377810.
    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.
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