{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:55:09Z","timestamp":1790434509836,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,11,28]],"date-time":"2014-11-28T00:00:00Z","timestamp":1417132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"crossref","award":["21210901"],"award-info":[{"award-number":["21210901"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,12]]},"abstract":"Abstract<\/jats:title>\n \n Short\u2010limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short\u2010limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short\u2010limbed short stature patients, among whom\n \n FGFR<\/jats:styled-content>\n 3\n <\/jats:italic>\n \u2010related chondrodysplasia such as achondroplasia (\n n<\/jats:italic>\n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia (\n n<\/jats:italic>\n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is\n \n FGFR<\/jats:styled-content>\n 3\n <\/jats:italic>\n mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having \u201chypochondroplasia\u201d. In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and\n A<\/jats:styled-content>\n arskog\u2013\n S<\/jats:styled-content>\n cott syndrome were included in addition to\n \n FGFR<\/jats:styled-content>\n 3\n <\/jats:italic>\n \u2010related hypochondroplasia (\n n<\/jats:italic>\n = 10). Clinical diagnosis of each disorder causing short\u2010limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short\u2010limb short stature. Diagnostic strategies must be created for each disorder.\n <\/jats:p>","DOI":"10.1111\/ped.12511","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T03:15:32Z","timestamp":1411355732000},"page":"809-812","source":"Crossref","is-referenced-by-count":10,"title":["Children with short\u2010limbed short stature in pediatric endocrinological services in\n J<\/scp>\n apan"],"prefix":"10.1111","volume":"56","author":[{"given":"Kosei","family":"Hasegawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Okayama University Hospital Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Okayama University Hospital Okayama Japan"},{"name":"Department of Pediatrics Okayama Saiseikai General Hospital Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000317440"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2004.050799"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiographics.10.2.2183297"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.5.27"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1726-4901(09)70126-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/03014469500004112"},{"key":"e_1_2_6_8_1","first-page":"321","article-title":"Gender\u2010specific growth patterns for stature, sitting height and limbs length in Croatian children and youth (3 to 18 years of age)","volume":"27","author":"Zivicnjak M","year":"2003","journal-title":"Coll. 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