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

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

doi:10.1177/088307380001500114

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

9 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 language	English
Pages (from-to)	61-63
Number of pages	3
Journal	Journal of Child Neurology
Volume	15
Issue number	1
DOIs	https://doi.org/10.1177/088307380001500114
Publication status	Published - 01-01-2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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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.",

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PY - 2000/1/1

Y1 - 2000/1/1

N2 - 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.

AB - 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.

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

Abstract

All Science Journal Classification (ASJC) codes

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