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Case Reports
. 1982 Aug;45(8):737-9.
doi: 10.1136/jnnp.45.8.737.

Joubert-Boltshauser syndrome with polydactyly in siblings

J Egger, M H Bellman, E M Ross, M Baraitser
Case Reports

Joubert-Boltshauser syndrome with polydactyly in siblings

J Egger et al. J Neurol Neurosurg Psychiatry. 1982 Aug.

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.

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