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Journal of Child Neurology
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Syndrome of Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Associated With Features of Rett Syndrome

Avinash K. Shetty, MD

Department of Pediatrics, Louisiana State University Medial Center and Children's Hospital New Orleans, Louisiana, avishetty{at}pol.net, Department of Neurology (A.H. T.) Louisiana State University Medical Center and Children's Hospital New Orleans, Louisiana

Rachael Chatters, MD

Department of Pediatrics, Louisiana State University Medial Center and Children's Hospital New Orleans, Louisiana, Department of Neurology (A.H. T.) Louisiana State University Medical Center and Children's Hospital New Orleans, Louisiana

Ann H. Tilton, MD

Department of Pediatrics, Louisiana State University Medial Center and Children's Hospital New Orleans, Louisiana, Department of Neurology (A.H. T.) Louisiana State University Medical Center and Children's Hospital New Orleans, Louisiana

Yves Lacassie, MD

Department of Pediatrics, Louisiana State University Medial Center and Children's Hospital New Orleans, Louisiana, Department of Neurology (A.H. T.) Louisiana State University Medical Center and Children's Hospital New Orleans, Louisiana

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. (J Child Neurol 2000;15:61-63).

Journal of Child Neurology, Vol. 15, No. 1, 61-63 (2000)
DOI: 10.1177/088307380001500114
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