Joubert-Boltshauser syndrome with polydactyly in siblings
- 1 August 1982
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 45 (8), 737-739
- https://doi.org/10.1136/jnnp.45.8.737
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.Keywords
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