{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T01:20:26Z","timestamp":1789003226674,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Achondroplasia (ACH) is a rare, autosomal dominant skeletal dysplasia characterized by short stature, characteristic facial configuration, and trident hands. Before vosoritide approval in Japan, patients with ACH could start growth hormone (GH) treatment at age 3\u2009years. However, ACH and its treatment in young Japanese children have not been studied. This retrospective, longitudinal, medical records\u2010based cohort study (before vosoritide approval) summarized symptoms, complications, monitoring, surgery\/interventions, and height with\/without GH in Japanese patients with ACH &lt;5\u2009years. Complications were observed in 89.2% of all 37 patients; 75.7% required surgery or intervention. All patients were monitored by magnetic resonance imaging; 73.0% had foramen magnum stenosis, while 54.1% had Achondroplasia Foramen Magnum Score 3 or 4. Of 28 GH\u2010treated patients, 22 initiating at age 3\u2009years were generally taller after 12\u2009months versus 9 non\u2010GH\u2010treated patients. Mean annual growth velocity significantly increased from age 2 to 3 versus 3 to 4\u2009years in GH\u2010treated patients (4.37 vs. 7.23\u2009cm\/year;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0014), but not in non\u2010GH\u2010treated patients (4.94 vs. 4.20\u2009cm\/year). The mean height at age 4\u2009years with\/without GH was 83.6\/79.8\u2009cm. These results improve our understanding of young patients with ACH in Japan and confirm that early diagnosis of ACH and monitoring of complications help facilitate appropriate interventions.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63612","type":"journal-article","created":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T06:09:30Z","timestamp":1711778970000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical outcomes and medical management of achondroplasia in\n                    <scp>Japanese<\/scp>\n                    children: A retrospective medical record review of clinical data"],"prefix":"10.1002","volume":"194","author":[{"given":"Hiroyuki","family":"Saitou","sequence":"first","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Suita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taichi","family":"Kitaoka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Suita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4483-4405","authenticated-orcid":false,"given":"Takuo","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Suita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism Saitama Children's Medical Center  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4069-5508","authenticated-orcid":false,"given":"Toshimi","family":"Michigami","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Research Research Institute, Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1751-6527","authenticated-orcid":false,"given":"Kosei","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Okayama University Hospital  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuma","family":"Fujiwara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sendai City Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hamajima","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Aichi Children's Health and Medical Center  Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka Hospital, Japan Community of Health Care Organization (JCHO)  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kagoshima University School of Medicine  Kagoshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-661X","authenticated-orcid":false,"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Niigata University Medical &amp; Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Graduate School of Biomedical Sciences  Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Namba","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Perinatology, Faculty of Medicine Tottori University  Tottori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Tokuoka","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Japan K.K.  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