{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:12:17Z","timestamp":1790651537668,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2013,12]]},"abstract":"Abstract<\/jats:title>Cartilage\u2013hair hypoplasia (CHH<\/jats:styled-content>) is an autosomal recessive disorder characterized by short stature, hypoplastic hair and humoral immunity disorders. It is a mutation in the RMRP<\/jats:styled-content><\/jats:italic> gene, located on chromosome 9p13.3, that leads to CHH<\/jats:styled-content>. There is no special treatment for short stature in CHH<\/jats:styled-content>. The efficacy and safety of recombinant human growth hormone (rhGH<\/jats:styled-content>) therapy in CHH<\/jats:styled-content> is still under discussion. The present study describes the case of a girl with CHH<\/jats:styled-content> who was treated with rhGH<\/jats:styled-content>. The rhGH treatment had a significant effect on the height gain: the height SD<\/jats:styled-content> score was changed from \u22124. to \u22122.98 after 4 years 7 months of treatment. rhGH therapy should be considered as a treatment modality for CHH<\/jats:styled-content>, and insulin\u2010like growth factor (IGF<\/jats:styled-content>)\u20101 and IGF<\/jats:styled-content>\u2010binding protein 3 concentrations should be closely monitored, particularly because of the increased cancer risk that is a characteristic feature of CHH<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ped.12215","type":"journal-article","created":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T02:15:13Z","timestamp":1386814513000},"source":"Crossref","is-referenced-by-count":9,"title":["Treatment of cartilage\u2013hair hypoplasia with recombinant human growth hormone"],"prefix":"10.1111","volume":"55","author":[{"given":"Monika","family":"Obara\u2010Moszynska","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Rheumatology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weronika","family":"Wielanowska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Rheumatology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Rojek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Rheumatology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danuta","family":"Wolnik\u2010Brzozowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Niedziela","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Rheumatology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90483-B"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.4.793"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08283"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70456-7"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.2.563"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.108102"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.113632"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199202000-00018"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2004.08.005"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2004.17.1.47"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12215","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T10:04:16Z","timestamp":1696154656000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/ped.12215"],"URL":"https:\/\/doi.org\/10.1111\/ped.12215","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}