Down syndrome-A narrative review with a focus on anatomical features.
Clin Anat
; 29(5): 568-77, 2016 Jul.
Article
em En
| MEDLINE
| ID: mdl-26599319
ABSTRACT
Down syndrome (DS) is the most common aneuploidy of chromosome 21, characterized by the presence of an extra copy of that chromosome (trisomy 21). Children with DS present with an abnormal phenotype, which is attributed to a loss of genetic balance or an excess dose of chromosome 21 genes. In recent years, advances in prenatal screening and diagnostic tests have aided in the early diagnosis and appropriate management of fetuses with DS. A myriad of clinical symptoms resulting from cognitive, physical, and physiological impairments caused by aberrations in various systems of the body occur in DS. However, despite these impairments, which range from trivial to fatal manifestations, the survival rate of individuals with DS has increased dramatically from less than 50% during the mid-1990s to 95% in the early 2000s, with a median life expectancy of 60 years reported recently. The aim of this narrative review is to review and summarize the etiopathology, prenatal screening and diagnostic tests, prognosis, clinical manifestations in various body systems, and comorbidities associated with DS. Clin. Anat. 29568-577, 2016. © 2015 Wiley Periodicals, Inc.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Síndrome de Down
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
Idioma:
En
Revista:
Clin Anat
Assunto da revista:
ANATOMIA
Ano de publicação:
2016
Tipo de documento:
Article