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Craniovertebral junction abnormality in a case of Joubert syndrome

✍ Scribed by Vogel, Timothy W.; Dlouhy, Brian J.; Menezes, Arnold H.

Book ID: 113036525
Publisher: Springer
Year: 2012
Tongue: English
Weight: 142 KB
Volume: 28
Category: Article
ISSN: 0256-7040
DOI: 10.1007/s00381-012-1682-3

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Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea and apnea, oculomotor abnormalities, and