Oligogyric microcephaly in a child with Williams syndrome

Francesca Faravelli, Stefano D'Arrigo, Irene Bagnasco, Angelo Selicorni, Ludovico D'Incerti, Daria Riva, Chiara Pantaleonil

Research output: Contribution to journalArticle

Abstract

We report a 19-month-old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly.

Original languageEnglish
Pages (from-to)169-171
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number2
Publication statusPublished - Mar 1 2003

Keywords

  • Mental retardation
  • Oligogyric microcephaly
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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    Faravelli, F., D'Arrigo, S., Bagnasco, I., Selicorni, A., D'Incerti, L., Riva, D., & Pantaleonil, C. (2003). Oligogyric microcephaly in a child with Williams syndrome. American Journal of Medical Genetics, 117 A(2), 169-171.