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.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology