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Article

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study

7 Apr 2018

Abstract excerpt

OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its...

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PMID: 29627765
DOI: 10.1136/archdischild-2018-314779

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