Síndrome de Smith Magenis: comunicación de un caso y revisión de la bibliografía / Smith Magenis Syndrome: case report and review
Arch. argent. pediatr
;
106(2): 143-146, abr.2008. tab, ilus
Article
in Spanish
| LILACS
| ID: lil-482400
RESUMEN
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).
ABSTRACT
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).
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Psychomotor Agitation
/
Child Behavior Disorders
/
Intellectual Disability
Limits:
Adolescent
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2008
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
CEGIN/AR
/
Centro Consultor de Patología Pediátrica y Prinatal/AR
/
Laboratorio Migliorini/AR
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