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).
Feingold M., Hall BD, Lacassie Y., Martinez-Frias ML:Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Am J Med Genet1997;69:245-249.
4.
Konig R., Selzer G., Stolp A., Fuchs S:Microcephaly, mesobrachyphalangy, and tracheoesophageal fistula: MMT syndrome . Dysmorphol Clin Genet1990;4:83-86.
5.
Hagberg BA:Rett's syndrome: Clinical peculiarities, diagnostic approach, and possible cause. Pediatr Neurol1989;5:75-83.
6.
Hagberg BA, Wittengerstrom I:Rett syndrome: Epidemiology and nosology—Progress in knowledge 1986—A conference communication. Brain Dev1987;9:451-457.
7.
Curtis AR, Headland S., Lindsay S., et al: X chromosome linkage studies in familial Rett syndrome. Hum Genet1993;90:551-555.
8.
Wahlstrom J:Practical and theoretical considerations concerning the genetics of the Rett syndrome. Brain Dev1987;9:466-468.