Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

Clin Genet. 1997 Sep;52(3):184-6. doi: 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Cerebellum / abnormalities
  • Cerebellum / diagnostic imaging
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Consanguinity
  • Dysarthria / genetics
  • Dysarthria / pathology
  • Face / abnormalities*
  • Gait / genetics
  • Gait / physiology
  • Genes, Recessive / genetics
  • Genes, Recessive / physiology
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Radiography
  • Rhombencephalon / abnormalities*
  • Rhombencephalon / pathology