{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:53:19Z","timestamp":1792039999568,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T00:00:00Z","timestamp":1602633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by\n                    <jats:italic>FGFR3<\/jats:italic>\n                    mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school\u2010age children, as limb\u2010to\u2010trunk disproportion and is often mild and easily overlooked during infancy. We report experiences from a single\u2010center UK HCH\u2010cohort of 31 patients, the rate of antenatal HCH detection in our cohort (13\/31, 41.9%) and describe relevant case\u2010data for this subset of 13 patients. Inclusion criteria were patients with confirmed molecular HCH diagnosis (by age 3\u2009years) and presenting with short long\u2010bones or large head size on antenatal ultrasound scan. We then conducted a systematic literature review using PUBMED and MEDLINE, analyzing patients with HCH and related antenatal findings. Antenatally suspected (with subsequent molecular confirmation) HCH has been reported 15 times in the literature (2004\u20132019). Key markers (consistent in both groups) included reduced; femur length, humeral length and increased; biparietal diameter and head circumference. HCH is increasingly detected both antenatally and in infancy, contrary to previous descriptions. This is likely due to greater HCH awareness, improved imaging, and easier molecular testing. Thus, one should consider HCH outside the classical presenting period. Studying the natural history of younger patients with HCH is important with the advent of several targeted FGFR3 therapies currently in trials for Achondroplasia, that may soon be trialed in HCH.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61912","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T04:09:14Z","timestamp":1602648554000},"page":"73-82","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Earlier detection of hypochondroplasia: A large single\u2010center\n                    <scp>UK<\/scp>\n                    case series and systematic review"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4857-1964","authenticated-orcid":false,"given":"Ataf H.","family":"Sabir","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust  London UK"},{"name":"Department of Clinical Genetics Birmingham Women's and Children's Hospital NHS Trust &amp; Birmingham Health Partners  Birmingham UK"},{"name":"Medical School University of Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameela","family":"Sheikh","sequence":"additional","affiliation":[{"name":"Medical School University of Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ananya","family":"Singh","sequence":"additional","affiliation":[{"name":"Medical School University of Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Morley","sequence":"additional","affiliation":[{"name":"Department of Trauma and Orthopaedics The Royal Wolverhampton NHS Trust  Wolverhampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4312-4591","authenticated-orcid":false,"given":"Alessandra","family":"Cocca","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira S.","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melita","family":"Irving","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.5734\/JGM.2016.13.1.46"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.04.016"},{"key":"e_1_2_10_4_1","unstructured":"BioMarin Pharmaceutical. 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