Vermian hypoplasia and arrested cerebral myelination in two sisters: Variant of Joubert's syndrome or a new syndrome?

William DeMyer, Alberto Espay, Laurence Walsh, Susan Benes, Mary Edwards-Brown

Research output: Contribution to journalArticle

Abstract

Two adult sisters have vermian hypoplasia, ataxia, nystagmus, pontine divergence insufficiency, and mild to moderate intellectual disability, with an arrest of cerebral myelination resembling the pattern of a 4-month-old infant. Other abnormalities include high myopia, optic nerve hypoplasia, decreased bone density, hypoplasia of the secondary teeth, and amenorrhea. We did not find matching patients described in the literature. The sisters could represent a variant of one of the described syndromes of the cerebellocerebro-oculorenal spectrum, such as a variant of Joubert's syndrome, or a disorder sui generis within the spectrum.

Original languageEnglish (US)
Pages (from-to)755-762
Number of pages8
JournalJournal of Child Neurology
Volume18
Issue number11
DOIs
StatePublished - Nov 2003

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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