title: Down syndrome-A narrative review with a focus on anatomical features.
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. 29:568-577, 2016. © 2015 Wiley Periodicals, Inc.
authors.affiliation: Department of Physical Therapy, College of Applied Medical Sciences, Majmaah University, Kingdom of Saudi Arabia.
authors.forename: Ashokan
authors.initials: A
authors.lastname: Arumugam
authors.affiliation: JSS College of Physiotherapy, Mysore, Karnataka, India.
authors.forename: Kavitha
authors.initials: K
authors.lastname: Raja
authors.affiliation: PSG College of Physiotherapy, Peelamedu, Coimbatore, Tamil Nadu, India.
authors.forename: Mahalakshmi
authors.initials: M
authors.lastname: Venugopalan
authors.affiliation: Department of Pulmonary Rehabilitation, PSG Hospitals, Coimbatore, Tamil Nadu, India.
authors.forename: Baskaran
authors.initials: B
authors.lastname: Chandrasekaran
authors.affiliation: Centre for Health, Activity and Rehabilitation Research, School of Physiotherapy, University of Otago, Dunedin, New Zealand.
authors.forename: Kesava
authors.initials: K
authors.lastname: Kovanur Sampath
authors.affiliation: Department of Physical Therapy, College of Applied Medical Sciences, Majmaah University, Kingdom of Saudi Arabia.
authors.forename: Hariraja
authors.initials: H
authors.lastname: Muthusamy
authors.affiliation: RVS College of Physiotherapy, Sulur, Tamil Nadu, India.
authors.forename: Nagarani
authors.initials: N
authors.lastname: Shanmugam
mesh_terms: D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008403:Mass Screening; D011296:Prenatal Diagnosis; D011379:Prognosis
keywords: Down syndrome; autosomal aneuploidy; morbidity; mortality; phenotype; trisomy 21