Early Onset Scoliosis within the 22q11.2 Deletion Syndrome (22q11.2DS)

• DOI: 10.1016/j.jspd.2017.09.020
• Publication Date: 2017-10-17T03:45:59Z
• Authors: Jelle Homans; Vyaas Baldew; Tom Schlösser; Moyo Kruyt; René Castelein
• Keywords: 0301 basic medicine; 03 medical and health sciences; 3. Good health

22q11.2DS is the most common microdeletion syndrome. It is characterized by a wide phenotypic variability, including scoliosis. This is the first epidemiological study that shows that the prevalence of early onset scoliosis within this vulnerable group of patients is around 40%. A congenital heart defect (CHD) irrespective of surgery was an independent risk factor, with an Odd's Ratio of 12.09.