Síndrome de Smith-Magenis: comunicación de un caso y revisión de la bibliografía

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).