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, voc...

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Published inArchivos argentinos de pediatría Vol. 106; no. 2; pp. 143 - 146
Main Authors Bronberg, Rubén, Ziembar, María, Drut, Mónica, Goldschmidt, Ernesto
Format Journal Article
LanguageSpanish
Published Argentina 01.04.2008
Subjects
Adolescent
Cognition Disorders - diagnosis
Cognition Disorders - genetics
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Face - abnormalities
Female
Humans
Karyotyping
Mental Disorders - diagnosis
Mental Disorders - genetics
Phenotype
Syndrome
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Summary: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).
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Review-3
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ObjectType-Case Study-5
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ObjectType-Report-4
ISSN:1668-3501
DOI:10.1590/S0325-00752008000200009