{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:02:28Z","timestamp":1787313748148,"version":"build-2736575974"},"reference-count":44,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background Hypochondroplasia is a skeletal dysplasia caused by activating\n                    pathologic variants of FGFR3. The N540K variant accounts for\n                    60\u201370% of reported cases and is associated with severe\n                    manifestations. Here, we analyze the clinical manifestations and outcomes of\n                    Korean patients with hypochondroplasia harboring the FGFR3 N540K\n                    variant.<\/jats:p>\n                  <jats:p>Methods Medical records of 20 unrelated patients with genetically\n                    confirmed N540K-related hypochondroplasia were retrospectively reviewed. All\n                    individuals were diagnosed with hypochondroplasia by Sanger sequencing for\n                        FGFR3, or target-panel sequencing for skeletal dysplasia. The\n                    effectiveness of growth hormone therapy was analyzed in 16 patients treated with\n                    growth hormones.<\/jats:p>\n                  <jats:p>Results Among 20 patients (7 men, 13 women), the mean age at first visit\n                    was 3.5\u00b11.0 years, and the mean follow-up duration was 6.8\u00b10.6\n                    years. The patients presented with a short stature and\/or short limbs.\n                    Genu varum, macrocephaly, and developmental delay were observed in 11\n                    (55.0%), 9 (45.0%), and 5 (25.0%) patients,\n                    respectively. Of the 12 patients who underwent neuroimaging, five\n                    (41.7%) showed abnormal findings (one required operation for obstructive\n                    hydrocephalus). Among 16 growth-hormone-treated patients (two were\n                    growth-hormone deficient), the increase in height standard deviation scores was\n                    significant after a mean 5.4\u00b10.7 years of treatment (+0.6\n                    and+1.8 using growth references for healthy controls and achondroplasia\n                    children, respectively). Four patients underwent surgical limb lengthening at a\n                    mean age of 8.8\u00b13.3 years.<\/jats:p>\n                  <jats:p>Conclusions Neurodevelopmental abnormalities are frequently observed in\n                    patients with N540K-related hypochondroplasia. Close monitoring of skeletal\n                    manifestations and neurodevelopmental status is necessary for\n                    hypochondroplasia.<\/jats:p>","DOI":"10.1055\/a-1988-9734","type":"journal-article","created":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T19:34:55Z","timestamp":1669664095000},"page":"123-131","source":"Crossref","is-referenced-by-count":4,"title":["Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia\n                    Patients with the FGFR3 N540K variant"],"prefix":"10.1055","volume":"131","author":[{"given":"Hwa Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Bundang Hospital,\n                    Seongnam, Korea"},{"name":"Department of Pediatrics, Seoul National University College of\n                    Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ah","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\n                    Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Choong Ho","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\n                    Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae-Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Seoul National University Hospital, Seoul\n                    National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\n                    Medicine, Seoul, Korea"},{"name":"Rare Disease Center, Seoul National University Hospital, Seoul,\n                    Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,2,14]]},"reference":[{"key":"ref1","first-page":"1993","volume-title":"Hypochondroplasia. 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Diabetes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1988-9734.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T20:11:06Z","timestamp":1678392666000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1988-9734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,28]]},"references-count":44,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2023,3,9]]},"published-print":{"date-parts":[[2023,3]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1988-9734","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0947-7349","1439-3646"],"issn-type":[{"value":"0947-7349","type":"print"},{"value":"1439-3646","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,11,28]]},"published":{"date-parts":[[2022,11,28]]}}}