Moeschler J B, Charman C E, Berg S Z, Graham J M
Department of Maternal and Child Health, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03755.
Pediatrics. 1988 Jul;82(1):1-10.
The clinical findings of seven girls and one woman, 2 to 25 years of age, with Rett syndrome are presented. Previous diagnoses included Prader-Willi syndrome, Angleman syndrome, toxic reaction to pertussis vaccine, CNS dysgenesis, and encephalitis. Rett syndrome has a recognizable neurodevelopmental phenotype without a specific biologic marker, which makes the diagnosis difficult at times. Treatment is largely supportive, and an active parents' association has been helpful to many families.
