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Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501


BRONBERG, Rubén; ZIEMBAR, María; DRUT, Mónica  and  GOLDSCHMIDT, Ernesto. Smith-Magenis syndrome: case report and review. Arch. argent. pediatr. [online]. 2008, vol.106, n.2, pp.143-146. ISSN 0325-0075.

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).

Keywords : Smith-Magenis syndrome; Developmental delay; Cognitive impairment; Behavioral abnormalities.

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