{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:35:55Z","timestamp":1791405355411,"version":"4.3.3"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001279","name":"Great Ormond Street Hospital Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001279","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["302303"],"award-info":[{"award-number":["302303"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","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":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the\n                    <jats:italic>FGFR3<\/jats:italic>\n                    gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head\u2010stature disproportion to help pediatricians diagnose HCH. The Head Circumference Height Index (HCH\u2010I), based on formal statistical principles, is defined as\n                    <jats:italic>height Z\u2010score \u2014 1\/2 head circumference Z\u2010score<\/jats:italic>\n                    , with the Z\u2010scores based here on the UK90 growth reference. An HCH\u2010I below the cut\u2010off of \u22122 indicates substantial head\u2010height disproportion. We validated the index by comparing children diagnosed with HCH (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009364), using data from the recent European HCH growth charts, to children from the Cambridge Infant Growth Study (CIGS) (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20094620). The mean (SD) HCH\u2010I was \u22123.0 (1.2) in the HCH cohort, compared to \u22120.2 (0.9) in the CIGS cohort. An HCH\u2010I below \u22122 correctly identified 78% of children with HCH, while only 2.4% of CIGS children fell below the cut\u2010off. An HCH\u2010I below \u22122 identifies children with head\u2010height disproportion who may have HCH or another genetic disorder. The index is deliberately simple to calculate and should prove useful in clinical practice.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64266","type":"journal-article","created":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:54:47Z","timestamp":1759481687000},"page":"353-359","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The Head Circumference Height Index (HCH\u2010I) to\u00a0Quantify\u00a0Relative Macrocephaly and Aid Identification\u00a0of Hypochondroplasia in Children"],"prefix":"10.1002","volume":"200","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 NHS Foundation Trust Department of Paediatric Endocrinology  London UK"},{"name":"UCL Great Ormond Street Institute of Child Health  London 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of Child Health  London 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