{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:56:31Z","timestamp":1791366991064,"version":"4.3.1"},"reference-count":63,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"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"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia caused by gain\u2010of\u2010function variants in\n                    <jats:italic>FGFR3<\/jats:italic>\n                    , leading to disproportionate short stature. Available growth references are limited, and body proportion data is lacking. We conducted a retrospective cohort study of 131 children with molecularly confirmed HCH (72 males, 59 females) from Argentina and Spain. Longitudinal anthropometric data (height, sitting height, head circumference) from birth to 18\u2009years were analyzed. Leg length and body proportion indices were derived. Age\u2010 and sex\u2010specific centiles were constructed using the LMS method. A total of 864 height, 660 sitting height, and 777 head circumference measurements were included. The majority of the individuals had the recurrent p.Asn540Lys FGFR3 variant (116\/131). Birth size was significantly lower than reference standards. Height remained below the general population, with an overlap between the third centile of reference charts and the 90th\u201397th centiles of HCH. Sitting height showed a mild pubertal spurt, while leg length was markedly reduced without pubertal acceleration. Head circumference was normal but relatively increased for height. Body proportion indices confirmed disproportion from early life. These new growth references, including segmental and proportional indices, provide clinically relevant tools for monitoring growth and evaluating emerging therapies in HCH.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70325","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:39:37Z","timestamp":1791365977000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Height, Head Circumference, Sitting Height, Leg Length, and Body Proportions Growth References to the Argentinian and Spanish Population for Hypochondroplasia"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6095-7080","authenticated-orcid":false,"given":"Mariana","family":"del Pino","sequence":"first","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9547-9746","authenticated-orcid":false,"given":"Mercedes","family":"Le\u00f3n\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics Hospital Universitario de La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4800-6928","authenticated-orcid":false,"given":"Sof\u00eda","family":"Chiaramonte","sequence":"additional","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2409-4422","authenticated-orcid":false,"given":"Silvia","family":"Modamio\u2010Hoybjor","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics Hospital Universitario de La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9810-2854","authenticated-orcid":false,"given":"Ana C.","family":"Barreda\u2010Bonis","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND) Hospital Universitario La Paz  Madrid Spain"},{"name":"Dept of Pediatric Endocrinology Hospital Universitario La Paz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1080-9969","authenticated-orcid":false,"given":"Ver\u00f3nica","family":"Araoz","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2602-0793","authenticated-orcid":false,"given":"Silvia","family":"Caino","sequence":"additional","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1717-2805","authenticated-orcid":false,"given":"Rosario","family":"Ramos\u2010Mej\u00eda","sequence":"additional","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics Hospital Universitario de La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER ISCIII  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102018\u20100046"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.12.008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795\u2010357"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749\u20106632.1996.tb56257.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/316892"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2010.01331.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000297575"},{"key":"e_1_2_9_9_1","volume-title":"GeneReviews","author":"Bober M. 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