Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome.
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.
Shetty
A K
AK
Department of Pediatrics, Louisiana State University Medical Center and Children's Hospital, New Orleans, USA. avishetty@pol.net
Chatters
R
R
Tilton
A H
AH
Lacassie
Y
Y
D000293:Adolescent; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014138:Tracheoesophageal Fistula / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome