[Smith-Magenis syndrome: case report and review].
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).
Bronberg
Rubén
R
CEGIN Asesoramiento Genético Integral. rabronberg@intramed.net.ar
Ziembar
María
M
Drut
Mónica
M
Goldschmidt
Ernesto
E
D000293:Adolescent; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007621:Karyotyping; D001523:Mental Disorders / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome