{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T19:56:29Z","timestamp":1792439789046,"version":"4.5.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0\u201318\u2009years. Of the 84 children who underwent genetic testing, a pathogenic variant in\n                    <jats:italic>FGFR3<\/jats:italic>\n                    was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0\u20134 and 0\u201316\u2009years. HCH\u2010specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63431","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T23:06:57Z","timestamp":1697065617000},"page":"243-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Growth reference charts for children with hypochondroplasia"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0742-7595","authenticated-orcid":false,"given":"Moira S.","family":"Cheung","sequence":"first","affiliation":[{"name":"Great Ormond Street Hospital for Children  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim J.","family":"Cole","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Arundel","sequence":"additional","affiliation":[{"name":"Sheffield Children's Hospital NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Bridges","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Chelsea and Westminster Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine P.","family":"Burren","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology and Diabetes Department Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Cole","sequence":"additional","affiliation":[{"name":"Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin Huw","family":"Davies","sequence":"additional","affiliation":[{"name":"Regional Centre for Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton Children's Hospital, University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5605-2462","authenticated-orcid":false,"given":"Lars","family":"Hagen\u00e4s","sequence":"additional","affiliation":[{"name":"Paediatric Endocrine Unit Paediatric Clinic, Karolinska Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[{"name":"Institute of Metabolism &amp; Systems Research, University of Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Hulse","sequence":"additional","affiliation":[{"name":"Evelina Children's Hospital, St. Thomas' Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avril","family":"Mason","sequence":"additional","affiliation":[{"name":"Department of Endocrinology (E.M.F.) 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