Down syndrome—A narrative review with a focus on anatomical features

Baskaran, Chandrasekaran (2016) Down syndrome—A narrative review with a focus on anatomical features. Clinical Anatomy, 29 (5). pp. 568-577. ISSN 0897-3806

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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.

Item Type: Article
Uncontrolled Keywords: Down syndrome; trisomy 21; autosomal aneuploidy; phenotype; morbidity; mortality.
Subjects: Allied Health > MCOAHS Manipal > Physiotherapy
Depositing User: KMC Library
Date Deposited: 03 Nov 2017 08:53
Last Modified: 03 Nov 2017 08:53

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