{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:53:37Z","timestamp":1762300417784,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T00:00:00Z","timestamp":1692835200000},"content-version":"vor","delay-in-days":235,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical records and spinal X\u2010rays of 35 consecutive NS and CS patients were reviewed. Spinal X\u2010rays were assessed to define the presence and progression of scoliosis. Clinical records were examined to identify the risk factors associated with scoliosis. In addition, we investigated the association between clinical records and scoliosis using logistic regression analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four patients with NS and 11 with CS were included. Nine patients with NS and five with CS showed scoliosis. The mean \u00b1 SD age at diagnosis was 12.6\u2009\u00b1\u20092.4\u2009years in NS and 11.4\u2009\u00b1\u20092.5\u2009years in CS (<jats:italic>p<\/jats:italic>\u2009=\u20090.55), and mean follow\u2010up period was 4.8\u2009\u00b1\u20092.6\u2009years and 6.3\u2009\u00b1\u20092.4\u2009years (<jats:italic>p<\/jats:italic>\u2009=\u20090.42), respectively. The coronal angular deformity at final follow\u2010up was 27.3\u2009\u00b1\u20098.5\u00b0 in NS and 19.4\u2009\u00b1\u20096.9\u00b0 in CS (<jats:italic>p<\/jats:italic>\u2009=\u20090.030) with a mean annual progression of 2.8\u2009\u00b1\u20091.1\u00b0 in NS 1.0\u2009\u00b1\u20091.0\u00b0 in CS (<jats:italic>p<\/jats:italic>\u2009=\u20090.030). Cardiac disease was present in eight out of nine patients with NS with concomitant scoliosis in NS, and significantly more than in CS (<jats:italic>p<\/jats:italic>\u2009=\u20090.007). <jats:italic>PTPN11<\/jats:italic> significantly correlated with scoliosis (odds ratio 12.4 0.035, 95% confidence interval: 1.20\u2013128.00).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Spinal deformity in NS is more severe than in CS. This study identified a relationship between <jats:italic>PTPN11<\/jats:italic> and scoliosis. Therefore, <jats:italic>PTPN11<\/jats:italic> can be used for the screening of scoliosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15589","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T12:05:42Z","timestamp":1692878742000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>RASopathies<\/scp> and spinal deformities for screening of scoliosis"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4138-1068","authenticated-orcid":false,"given":"Masayoshi","family":"Machida","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett","family":"Rocos","sequence":"additional","affiliation":[{"name":"Division of Spine Surgery Duke Orthopedic Surgery  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuaki","family":"Taira","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naho","family":"Nemoto","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noboru","family":"Oikawa","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoma","family":"Kaguchi","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyoshi","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Nihon University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153523"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e318220396e"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.116060"},{"key":"e_1_2_8_6_1","article-title":"Noonan syndrome and related 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