Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)

Alternative eponyms

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A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities.

Description

A rare congenital disorder with the combination of stationary spinocerebellar ataxia, congenital cataract which progresses to blindness, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. Both sexes affected; clinical onset when child learns to walk. Inheritance is autosomal recessive.

Bibliography

  • G. Marinescu, S. Draganescu, D. Vasiliu:
    Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du dévelopement somato-neuro-psychique.
    L'encéphale, Paris, 1931, 26: 97-109.
  • T. Sjögren:
    Klinische und vererbungsmedizinische Untersuchungen über Oligophrenie mit kongenitaler Katarakt.
    Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1935, 152: 263-292.
  • T. Sjögren:
    Hereditary congenital spinocerebellar ataxia combined with congenital cataract and oligophrenia.
    Acta psychiatrica et neurologica scandinavica, Copenhagen, 1947, 46(Suppl): 286-289
  • T. Sjögren:
    Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation.
    Confinia Neurologica, Basel, 1950, 10: 293-308.
  • H. Garland, D. Moorhouse:
    An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract and other features.
    Journal of Neurology, Neurosurgery and Psychiatry, London, 1953, 16: 110-116.
  • G. Marinesco, et al:
    Nouvelle maladie familiale caractérisée par une cataracte congénitale e un arrêt du développement somato-neuro-psychique.
    L'encéphale, Paris, 1931, 26: 97-109.

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