Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature

M. Rossi, Renzo Guerrini, W. B. Dobyns, G. Andria, R. M. Winter

Research output: Contribution to journalReview articlepeer-review

30 Scopus citations

Abstract

Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. We report a further case and provide updated information about an unrelated girl reported in the original paper by Baraitser and Winter. Both of them presented with pachygyria and the latter case was recently found to have subcortical band heterotopia on high resolution brain MRI imaging. These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of syndromic neuronal migration defect.

Original languageEnglish (US)
Pages (from-to)287-292
Number of pages6
JournalNeuropediatrics
Volume34
Issue number6
DOIs
StatePublished - Dec 2003
Externally publishedYes

Keywords

  • Baraitser-Winter syndrome
  • Lissencephaly
  • Neuronal migration anomalies
  • Pachygyria
  • Subcortical band heterotopia

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