Síndrome de Smith Magenis: comunicación de un caso y revisión de la bibliografía / Smith Magenis Syndrome: case report and review
Bronberg, Rubén; Ziembar, María; Drut, Mónica; Goldschmidt, Ernesto.
Arch. argent. pediatr
; 106(2): 143-146, abr.2008. tab, ilus
Artículo
en Español
| BINACIS | ID: bin-122262
El síndrome de Smith-Magenis (SSM) consta de apariencia facial característica que progresa con la edad, retraso en el desarrollo, déficit cognitivo y trastornos conductuales asociados a una anomalía molecular en la zona crítica 17p11.2. Elt ratamiento incluye: intervención temprana en programas de educación especial, entrenamiento vocacional y terapias del lenguaje, físicas, ocupacional, conductuales y de integración sensorial. Presentamos una niña de 14 años con retraso mental, trastornosconductuales y dismorfias faciales, con diagnóstico de SSM confirmado mediante estudio citogenético y de hibridación insitu fluorescente (FISH).(AU)
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).(AU)
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).(AU)
Biblioteca responsable:
AR94.1
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