Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome

Avinash K. Shetty, Rachael Chatters, Ann H. Tilton, Yves Lacassie

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

We report a 12-year-old girl with features of the syndrome of microcephaly, mesobrachydactyly, and tracheoesophageal fistula, who also developed distinctive features of Rett syndrome including regression of milestones with repetitive actions, autistic-like behavior, stereotypic hand movements, and seizures. This unique combination of clinical manifestations appears to constitute a 'new syndrome.' We speculate that this association may represent a contiguous gene syndrome.

Original languageEnglish
Pages (from-to)61-63
Number of pages3
JournalJournal of Child Neurology
Volume15
Issue number1
DOIs
Publication statusPublished - 01-01-2000
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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