%0 Journal Article
%T S¨ªndrome de Smith-Magenis: comunicaci¨®n de un caso y revisi¨®n de la bibliograf¨ªa
%A Bronberg
%A Rub¨¦n
%A Ziembar
%A Mar¨ªa
%A Drut
%A M¨®nica
%A Goldschmidt
%A Ernesto
%J Archivos argentinos de pediatr£¿-a
%D 2008
%I Sociedad Argentina de Pediatria
%X 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).
%K smith-magenis syndrome
%K developmental delay
%K cognitive impairment
%K behavioral abnormalities.
%U http://www.scielo.org.ar/scielo.php?script=sci_abstract&pid=S0325-00752008000200009&lng=en&nrm=iso&tlng=en