1. [Smith-Magenis syndrome: case report and review].
- Author
-
Bronberg R, Ziembar M, Drut M, and Goldschmidt E
- Subjects
- Adolescent, Cognition Disorders genetics, Developmental Disabilities genetics, Female, Humans, Karyotyping, Mental Disorders genetics, Phenotype, Syndrome, Cognition Disorders diagnosis, Developmental Disabilities diagnosis, Face abnormalities, Mental Disorders diagnosis
- Abstract
Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special education, vocational training later in life, and speech/language, physical, and occupational, behavioral, and sensory integration therapies. We report a 14-year-old girl with mental retardation, behavioral abnormalities and facial dysmorphism, with SMS diagnosis confirmed by cytogenetic analysis and in situ hydridization (FISH).
- Published
- 2008
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