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


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 characteristics and the association with CHD in patients with 22q11.2DS.

Design This prevalence study is based on physical examination and questionnaires of the world’s largest 22q11.2DS longitudinal collected database (n=1393, Children’s Hospital of Philadelphia) and was augmented with the scoliosis prevalence based on radiography in a smaller cohort (cross-sectional, University Medical Center Utrecht).

Patients Patients with a laboratory-confirmed 22q11.2 deletion who visited the specialised outpatient clinics were considered for inclusion.

Main outcome measures (1) The prevalence of scoliosis, (2) its association with CHD, and (3) the similarity between 22q11.2DS curve patterns and adolescent idiopathic scoliosis (AIS) curve patterns.

Results Within the Philadelphia cohort, the prevalence of scoliosis in patients older than 16 years (n=317) was 48% (n=152). A similar prevalence (49%) was shown for the younger Utrecht cohort (n=97). The occurrence of scoliosis was not associated with the presence of CHD. Sixty-three per cent of patients with scoliosis had a scoliotic curve pattern that resembled AIS.

Conclusions Clinicians should be aware that scoliosis is highly prevalent (48%–49%) in association with 22q11.2DS, irrespective of other clinical features (eg, the presence of CHD). Furthermore, 22q11.2DS may provide insights into the causes of AIS.

  • 22q11.2 deletion syndrome
  • 22q11.2DS
  • orthopaedics
  • spine
  • scoliosis

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