Paper #17: Early Onset Scoliosis within the 22q11.2 Deletion Syndrome (22q11.2DS).

Homans, Jelle; Baldew, Vyaas; Schlösser, Tom; Kruyt, Moyo; Castelein, René · Spine Deform · 2017

cross_sectional · Level IV

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Abstract

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.