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This study aims to analyse the clinical characteristics and gene mutations of ACH to accurately determine whether a patient has ACH and to raise public awareness of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The database of Pubmed, Cochrane Library, Wanfang and CNKI were searched with terms of \u201cAchondroplasias\u201d or \u201cSkeleton-Skin-Brain Syndrome\u201d or \u201cSkeleton Skin Brain Syndrome\u201d or \u201cACH\u201d and \u201cReceptor, Fibroblast Growth Factor, Type 3\u201d or \u201c\n                      <jats:italic>FGFR3<\/jats:italic>\n                      \u201d.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Finally, four hundred and sixty-seven patients with different\n                      <jats:italic>FGFR3<\/jats:italic>\n                      mutations were enrolled. Of the 138 patients with available gender information, 55(55\/138, 40%) were female and 83(83\/138, 60%) were male. Among the patients with available family history, 47(47\/385, 12%) had a family history and 338(338\/385, 88%) patients were sporadic. The age of the patients ranged from newborn babies to 36 years old. The mean age of their fathers was 37\u2009\u00b1\u20097 years (range 31\u201353 years). Patients came from 12 countries and 2 continents, with the majority being Asian (383\/432, 89%), followed by European (49\/432, 11%). Short stature with shortened arms and legs was found in 112(112\/112) patients, the abnormalities of macrocephaly in 94(94\/112) patients, frontal bossing in 89(89\/112) patients, genu valgum in 64(64\/112) patients and trident hand were found in 51(51\/112) patients. The most common mutation was\n                      <jats:italic>p.Gly380Arg<\/jats:italic>\n                      of the\n                      <jats:italic>FGFR3<\/jats:italic>\n                      gene, which contained two different base\u00a0changes,\n                      <jats:italic>c.1138G<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>A<\/jats:italic>\n                      and\n                      <jats:italic>c.1138G<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>C<\/jats:italic>\n                      . Ten rare pathogenic mutations were found, including\n                      <jats:italic>c.831A<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>C<\/jats:italic>\n                      ,\n                      <jats:italic>c.1031C<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>G<\/jats:italic>\n                      ,\n                      <jats:italic>c.1043C<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>G<\/jats:italic>\n                      ,\n                      <jats:italic>c.375G<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>T<\/jats:italic>\n                      ,\n                      <jats:italic>c.1133A<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>G<\/jats:italic>\n                      ,\n                      <jats:italic>c.1130T<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>G, c.833A<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>G<\/jats:italic>\n                      ,\n                      <jats:italic>c.649A<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>T<\/jats:italic>\n                      ,\n                      <jats:italic>c.1180A<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>T<\/jats:italic>\n                      and\n                      <jats:italic>c.970_971insTCTCCT<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      ACH was caused by\n                      <jats:italic>FGFR3<\/jats:italic>\n                      gene mutation, and\n                      <jats:italic>c.1138G<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>A<\/jats:italic>\n                      was the most common mutation type. This study demonstrates the feasibility of molecular genetic testing for the early detection of ACH in adolescents with short stature, trident hand, frontal bossing, macrocephaly and genu valgum.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03031-1","type":"journal-article","created":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T12:02:11Z","timestamp":1706356931000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Review of published 467 achondroplasia patients: clinical and mutational spectrum"],"prefix":"10.1186","volume":"19","author":[{"given":"XinZhong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siyi","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiqi","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaili","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Shan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2880-8787","authenticated-orcid":false,"given":"Jianjun","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,27]]},"reference":[{"issue":"6","key":"3031_CR1","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1016\/s0901-5027(98)80036-2","volume":"27","author":"MM Cohen Jr","year":"1998","unstructured":"Cohen MM Jr. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. 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