Down syndrome

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Total: 1

                      


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PMID (PMCID)
30149478
MALE Infant
Neonatal cholelithiasis in Down syndrome: Is hypothyroidism involved? A case-report.
Ricci F, Stagi S, Messa F, de Martino M.
J Neonatal Perinatal Med. 2018;11(4):423-425.
We report a 3-month-old male with Down syndrome (DS), prolonged jaundice and poor weight gain, that showed biliary lithiasis and undiagnosed congenital hypothyroidism (CH).CH should be considered in DS, especially in presence of gastrointestinal symptoms or malformations.