{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T12:46:46Z","timestamp":1793710006638,"version":"4.6.1"},"reference-count":36,"publisher":"BMJ","issue":"1","funder":[{"DOI":"10.13039\/501100001722","name":"Koninklijke Nederlandse Akademie van Wetenschappen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001722","id-type":"DOI","asserted-by":"publisher"}]},{"name":"K2M"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Arch Dis Child"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>This prevalence study is based on physical examination and questionnaires of the world\u2019s largest 22q11.2DS longitudinal collected database (n=1393, Children\u2019s Hospital of Philadelphia) and was augmented with the scoliosis prevalence based on radiography in a smaller cohort (cross-sectional, University Medical Center Utrecht).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Patients with a laboratory-confirmed 22q11.2 deletion who visited the specialised outpatient clinics were considered for inclusion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main outcome measures<\/jats:title><jats:p>(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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Clinicians should be aware that scoliosis is highly prevalent (48%\u201349%) 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.<\/jats:p><\/jats:sec>","DOI":"10.1136\/archdischild-2018-314779","type":"journal-article","created":{"date-parts":[[2018,4,7]],"date-time":"2018-04-07T16:25:20Z","timestamp":1523118320000},"page":"19-24","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":26,"title":["Scoliosis in association with the 22q11.2 deletion syndrome: an observational study"],"prefix":"10.1136","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0172-7335","authenticated-orcid":false,"given":"Jelle F","family":"Homans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyaas G M","family":"Baldew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob C","family":"Brink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moyo C","family":"Kruyt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom P C","family":"Schl\u00f6sser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel L","family":"Houben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent F X","family":"Deeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terrence B","family":"Crowley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 M","family":"Castelein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,4,7]]},"reference":[{"key":"2020050712471726000_104.1.19.1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"2020050712471726000_104.1.19.2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"2020050712471726000_104.1.19.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.719"},{"key":"2020050712471726000_104.1.19.4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"2020050712471726000_104.1.19.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.789-a"},{"key":"2020050712471726000_104.1.19.6","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"2020050712471726000_104.1.19.7","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"2020050712471726000_104.1.19.8","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1097\/BPB.0000000000000410","article-title":"Curve progression risk in a mixed series of braced and nonbraced patients with idiopathic scoliosis related to skeletal maturity assessment on the olecranon","volume":"26","author":"Charles","year":"2017","journal-title":"J Pediatr Orthop B"},{"key":"2020050712471726000_104.1.19.9","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e318202c25d"},{"key":"2020050712471726000_104.1.19.10","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.30"},{"key":"2020050712471726000_104.1.19.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1307337"},{"key":"2020050712471726000_104.1.19.12","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050786"},{"key":"2020050712471726000_104.1.19.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<210::AID-AJMG16>3.0.CO;2-Q"},{"key":"2020050712471726000_104.1.19.14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 Deletion Syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2020050712471726000_104.1.19.15","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00049.x"},{"key":"2020050712471726000_104.1.19.16","doi-asserted-by":"crossref","unstructured":"Homans JF , Tromp IN , Colo D , et al . Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. Am J Med Genet A 2017 [Epub ahead of print 21 Nov 2017]doi:10.1002\/ajmg.a.38545","DOI":"10.1002\/ajmg.a.38545"},{"key":"2020050712471726000_104.1.19.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"2020050712471726000_104.1.19.18","doi-asserted-by":"crossref","first-page":"449","DOI":"10.2106\/00004623-197557040-00002","article-title":"The association of scoliosis and congenital heart defects","volume":"57","author":"Reckles","year":"1975","journal-title":"J Bone Joint Surg Am"},{"key":"2020050712471726000_104.1.19.19","doi-asserted-by":"crossref","first-page":"514","DOI":"10.2106\/00004623-199304000-00006","article-title":"Scoliosis in children after thoracotomy for aortic coarctation","volume":"75","author":"Van Biezen","year":"1993","journal-title":"J Bone Joint Surg Am"},{"key":"2020050712471726000_104.1.19.20","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000158959.91925.43"},{"key":"2020050712471726000_104.1.19.21","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-009-9469-3"},{"key":"2020050712471726000_104.1.19.22","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1097\/BRS.0b013e318131b225","article-title":"Retrospective study on the development of spinal deformities following sternotomy for congenital heart disease","volume":"32","author":"Herrera-Soto","year":"2007","journal-title":"Spine"},{"key":"2020050712471726000_104.1.19.23","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2007.122671"},{"key":"2020050712471726000_104.1.19.24","unstructured":"Michael F , O\u2019Brien M , Timothy Kuklo RR , et al . Spinal Deformity Study Group Radiographic Measurement Manual. Tennessee, USA: Medtronic Sofamor Danek USA, Inc, 2008."},{"key":"2020050712471726000_104.1.19.25","doi-asserted-by":"crossref","unstructured":"Kane WJ . Scoliosis prevalence: a call for a statement of terms. Clin Orthop Relat Res 1977:43\u20136.","DOI":"10.1097\/00003086-197707000-00006"},{"key":"2020050712471726000_104.1.19.26","doi-asserted-by":"publisher","DOI":"10.1097\/01.BRS.0000084642.35146.EC"},{"key":"2020050712471726000_104.1.19.27","doi-asserted-by":"publisher","DOI":"10.1016\/j.spinee.2011.03.010"},{"key":"2020050712471726000_104.1.19.28","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1097\/01241398-200211000-00017","article-title":"Scoliosis in velo-cardio-facial syndrome","volume":"22","author":"Morava","year":"2002","journal-title":"J Pediatr Orthop"},{"key":"2020050712471726000_104.1.19.29","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"2020050712471726000_104.1.19.30","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80178-7"},{"key":"2020050712471726000_104.1.19.31","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(72)90468-1"},{"key":"2020050712471726000_104.1.19.32","first-page":"1131","article-title":"Congenital heart disease and scoliosis","volume":"38-A","author":"Niebauer","year":"1956","journal-title":"J Bone Joint Surg Am"},{"key":"2020050712471726000_104.1.19.33","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050602"},{"key":"2020050712471726000_104.1.19.34","doi-asserted-by":"crossref","first-page":"77","DOI":"10.4103\/0019-5413.91639","article-title":"Scoliosis after thoracotomy\/sternotomy in children with congenital heart disease","volume":"46","author":"Feiz","year":"2012","journal-title":"Indian J Orthop"},{"key":"2020050712471726000_104.1.19.35","first-page":"61","article-title":"Juvenile Idiopathic Scoliosis","volume":"63","author":"Figueiredo","year":"1981","journal-title":"Bone Joint J"},{"key":"2020050712471726000_104.1.19.36","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0b013e3181c7cb8c"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/archdischild-2018-314779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T22:13:08Z","timestamp":1601071988000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/archdischild-2018-314779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,7]]},"references-count":36,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12,13]]},"published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1136\/archdischild-2018-314779"],"URL":"https:\/\/doi.org\/10.1136\/archdischild-2018-314779","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,7]]}}}