Down Syndrome

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

September 16, 2021

Brief Musculoskeletal Screen and Patient Education for Down Syndrome-Associated Arthritis.

Global Pediatric Health
Jordan T JonesNasreen Talib
September 16, 2021

The Impact of Childhood Disease on Hospital Visiting: A Survey of Pediatricians.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi
Hanako TajimaMiki Kakinuma
September 16, 2021

Dosing of Opioid Medications During and After Pediatric Cardiac Surgery for Children With Down Syndrome.

Journal of Cardiothoracic and Vascular Anesthesia
Elizabeth R VogelMorgan L Brown
September 16, 2021

Peeling Skin Syndrome: An Easily Missed Rare Entity.

Swetalina PradhanGaurav Dash
September 15, 2021
Open Access

Permutational immune analysis reveals architectural similarities between inflammaging, Down syndrome and autoimmunity

BioRxiv : the Preprint Server for Biology
K. LambertBernard Khor
September 15, 2021

Outcomes in Ventilated Burn Patients with Acute Respiratory Distress Syndrome: An evaluation of early High-PEEP Strategy using Berlin criteria.

Journal of Burn Care & Research : Official Publication of the American Burn Association
Travis PerryPriti Parikh
September 15, 2021

Functioning of children and adolescents with Down syndrome and the association with environmental barriers and facilitators during the COVID-19 pandemic.

Journal of Intellectual Disabilities : JOID
Beatriz Helena BrugnaroNelci Adriana Cicuto Ferreira Rocha
September 15, 2021

Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Sara MatricardiAlberto Verrotti
September 15, 2021

Clinical and biological aspects of myeloid leukemia in Down syndrome.

Austin C BoucherJamie E Flerlage
September 15, 2021
Case Report

Graves' disease in a patient with Down syndrome: a shift from hyperthyroidism to hypothyroidism.

BMJ Case Reports
Sara Todo Bom CostaPatrícia Ferreira
September 14, 2021

Apela inhibits systemic and renal inflammatory reactions in mice with type I cardiorenal syndrome.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Liangli JinZhi Wang
September 13, 2021
Open Access

Alpha-Gal Syndrome: Involvement of Amblyomma americanum α-D-galactosidase and β-1,4 Galactosyltransferase enzymes in α-gal metabolism

BioRxiv : the Preprint Server for Biology
S. R. SharmaShahid Karim
September 14, 2021

Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018.

Respiration; International Review of Thoracic Diseases
Bernhard ReschFriedrich Reiterer

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