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Arch Argent Pediatr


Title:[Smith-Magenis syndrome: case report and review]
Author(s):Bronberg, R. Ziembar, M. Drut, M. Goldschmidt, E.
Address:CEGIN Asesoramiento Genetico Integral. rabronberg@intramed.net.ar
Year:2008 Apr
Journal Title:Arch Argent Pediatr
Page Number:143-6
Language:spa
Volume:106
Issue:2
ISSN/ISBN:1668-3501 (Electronic)
 
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).
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Citation: El-Sayed AM. The Pherobase: Database of Pheromones and Semiochemicals. <http://www.pherobase.com>.
The Pherobase - Extensive Database of Pheromones and Semiochemicals. Ashraf M. El-Sayed.