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

Ashokan Arumugam, Kavitha Raja, Mahalakshmi Venugopalan, Baskaran Chandrasekaran, Kesava Kovanur Sampath, Hariraja Muthusamy, Nagarani Shanmugam

Research output: Contribution to journalReview articlepeer-review

42 Citations (Scopus)


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. 29:568–577, 2016. � 2015 Wiley Periodicals, Inc.

Original languageEnglish
Pages (from-to)568-577
Number of pages10
JournalClinical Anatomy
Issue number5
Publication statusPublished - 01-07-2016

All Science Journal Classification (ASJC) codes

  • Anatomy
  • Histology


Dive into the research topics of 'Down syndrome—A narrative review with a focus on anatomical features'. Together they form a unique fingerprint.

Cite this