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Short report
Joubert–Boltshauser syndrome with polydactyly in siblings
  1. J Egger,
  2. MH Bellman,
  3. EM Ross,
  4. M Baraitser
  1. Hospital for Sick Children, Great Ormond Street, London, UK
  2. The Central Middlesex Hospital, London, UK

    Abstract

    Two siblings are described with clinical features of the Joubert–Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.

    https://doi.org/10.1136/jnnp.45.8.737

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