Joubert-Boltshauser syndrome with polydactyly in siblings.

Egger J; Bellman MH; Ross EM; Baraitser M

doi: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.

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J Neurol Neurosurg Psychiatry. 1982 Aug; 45(8): 737–739.

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

PMCID: PMC1083168

PMID: 7131000

Joubert–Boltshauser syndrome with polydactyly in siblings

J Egger, MH Bellman, EM Ross, and M Baraitser

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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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Selected References

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Diseases in OMIM (2)

DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY(OMIM - 220220)
OROFACIODIGITAL SYNDROME VI; OFD6(OMIM - 277170)

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Joubert-Boltshauser syndrome with polydactyly in siblings.

Abstract

Free full text

Joubert–Boltshauser syndrome with polydactyly in siblings

Abstract

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (662K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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Citations & impact

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Citations of article over time

Smart citations by scite.ai
Explore citation contexts and check if this article has been supported or disputed.
https://scite.ai/reports/10.1136/jnnp.45.8.737

Article citations

INPP5E Preserves Genomic Stability through Regulation of Mitosis.

Developmental disorders of the midbrain and hindbrain.

A report of Joubert syndrome in an infant, with literature review.

A child with delayed milestones and interesting findings on MR.

Are the oral-facial-digital syndromes ciliopathies?

Data

Data that cites the article

Diseases in OMIM (2)

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