Filippi syndrome: Further clinical characterization

Agatino Battaglia, Tiziana Filippi, Silvia Pusceddu, Charles A. Williams

Research output: Contribution to journalArticle

Abstract

We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome.

Original languageEnglish
Pages (from-to)1848-1852
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number14
DOIs
Publication statusPublished - Jul 15 2008

Keywords

  • Developmental delay/mental retardation
  • Epilepsy
  • Filippi syndrome
  • Human malformation
  • Language impairment
  • Syndactyly

ASJC Scopus subject areas

  • Genetics(clinical)

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