{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T12:40:22Z","timestamp":1789821622401,"version":"4.0.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1016\/j.ando.2017.04.011","type":"journal-article","created":{"date-parts":[[2017,5,8]],"date-time":"2017-05-08T19:30:43Z","timestamp":1494271843000},"page":"114-122","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Bone dysplasia"],"prefix":"10.1016","volume":"78","author":[{"given":"Agn\u00e8s","family":"Linglart","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Merzoug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Adamsbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2017.04.011_bib0005","doi-asserted-by":"crossref","DOI":"10.1007\/s11914-017-0347-2","article-title":"Current care and investigational therapies in achondroplasia","author":"Unger","year":"2017","journal-title":"Curr Osteoporos Rep"},{"key":"10.1016\/j.ando.2017.04.011_bib0010","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1530\/EJE-14-0945","article-title":"A novel variant of FGFR3 causes proportionate short stature","volume":"172","author":"Kant","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2017.04.011_bib0015","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.berh.2007.12.009","article-title":"Spondylo-epi-metaphyseal dysplasia","volume":"22","author":"Cormier-Daire","year":"2008","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.ando.2017.04.011_bib0020","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.a.30855","article-title":"Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations\u00a0\u2013\u00a0findings in 10 patients","volume":"137A","author":"M\u00e4kitie","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ando.2017.04.011_bib0025","first-page":"418","article-title":"Genetic and molecular aspects of acromelic dysplasia","volume":"6","author":"Le Goff","year":"2009","journal-title":"Pediatr Endocrinol Rev"},{"key":"10.1016\/j.ando.2017.04.011_bib0030","doi-asserted-by":"crossref","first-page":"P1","DOI":"10.1530\/EJE-16-0107","article-title":"From pseudohypoparathyroidism to inactivating PTH\/PTHrP signalling disorder (iPPSD), a novel classification proposed by the European EuroPHP network","volume":"175","author":"Thiele","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2017.04.011_bib0035","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1159\/000329359","article-title":"Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of L\u00e9ri\u2013Weill dyschondrosteosis","volume":"76","author":"Salmon-Musial","year":"2011","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ando.2017.04.011_bib0040","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.38.5.323","article-title":"SHOX point mutations in dyschondrosteosis","volume":"38","author":"Huber","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.ando.2017.04.011_bib0045","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ando.2017.04.011_bib0050","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1359\/jbmr.1999.14.10.1649","article-title":"Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein","volume":"14","author":"Ho","year":"1999","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.ando.2017.04.011_bib0055","doi-asserted-by":"crossref","first-page":"R185","DOI":"10.1530\/EJE-14-0865","article-title":"Endocrinology and adolescence: osteoporosis in children: diagnosis and management","volume":"173","author":"Saraff","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2017.04.011_bib0060","doi-asserted-by":"crossref","first-page":"R13","DOI":"10.1530\/EC-13-0103","article-title":"Therapeutic management of hypophosphatemic rickets from infancy to adulthood","volume":"3","author":"Linglart","year":"2014","journal-title":"Endocr Connect"},{"key":"10.1016\/j.ando.2017.04.011_bib0065","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s11914-016-0309-0","article-title":"Hypophosphatasia","volume":"14","author":"Linglart","year":"2016","journal-title":"Curr Osteoporos Rep"},{"key":"10.1016\/j.ando.2017.04.011_bib0070","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.bone.2016.08.019","article-title":"Hypophosphatasia: natural history study of 101 affected children investigated at one research center","volume":"93","author":"Whyte","year":"2016","journal-title":"Bone"},{"key":"10.1016\/j.ando.2017.04.011_bib0075","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/j.bbadis.2011.07.013","article-title":"Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options","volume":"1812","author":"Oussoren","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.ando.2017.04.011_bib0080","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1002\/jbmr.454","article-title":"Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)","volume":"26","author":"Wenkert","year":"2011","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.ando.2017.04.011_bib0085","doi-asserted-by":"crossref","first-page":"575","DOI":"10.3233\/BMR-140558","article-title":"Genetic skeletal dysplasias: a guide to diagnosis and management","volume":"28","author":"Sewell","year":"2015","journal-title":"J Back Musculoskelet Rehabil"},{"key":"10.1016\/j.ando.2017.04.011_bib0090","series-title":"GeneReviews\u00ae [Internet]","article-title":"Pseudoachondroplasia","author":"Briggs","year":"1993"},{"key":"10.1016\/j.ando.2017.04.011_bib0095","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/104.1.1","article-title":"Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations","volume":"104","author":"Poznanski","year":"1972","journal-title":"Radiology"},{"key":"10.1016\/j.ando.2017.04.011_bib0100","doi-asserted-by":"crossref","first-page":"187","DOI":"10.6065\/apem.2015.20.4.187","article-title":"Guidelines for genetic skeletal dysplasias for pediatricians","volume":"20","author":"Cho","year":"2015","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0105","first-page":"285","article-title":"[Radiologic anomalies of pseudohypoparathyroidism: diagnostic importance]","volume":"80","author":"Merzoug","year":"1999","journal-title":"J Radiol"},{"key":"10.1016\/j.ando.2017.04.011_bib0110","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s004310050781","article-title":"Health-related quality of life of patients with genetic skeletal dysplasias","volume":"157","author":"Apajasalo","year":"1998","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ando.2017.04.011_bib0115","doi-asserted-by":"crossref","first-page":"5011","DOI":"10.1210\/jc.2010-1649","article-title":"Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth","volume":"95","author":"Mantovani","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0120","doi-asserted-by":"crossref","first-page":"E2097","DOI":"10.1210\/jc.2011-0399","article-title":"Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion","volume":"96","author":"\u017divi\u010dnjak","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0125","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1210\/jc.2009-2531","article-title":"Near normalization of adult height and body proportions by growth hormone in pycnodysostosis","volume":"95","author":"Rothenbuhler","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0130","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00774-003-0425-7","article-title":"Efficacy of growth hormone therapy for patients with skeletal dysplasia","volume":"21","author":"Kanazawa","year":"2003","journal-title":"J Bone Miner Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0135","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/nrendo.2011.161","article-title":"Aromatase inhibitors in pediatrics","volume":"8","author":"Wit","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ando.2017.04.011_bib0140","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1210\/jcem.85.2.6387","article-title":"Adult height in short normal girls treated with gonadotropin-releasing hormone analogs and growth hormone","volume":"85","author":"Pasquino","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0145","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167A","author":"Bonafe","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ando.2017.04.011_bib0150","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0022-3476(78)81152-4","article-title":"Standard growth curves for achondroplasia","volume":"93","author":"Horton","year":"1978","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2017.04.011_bib0155","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1507\/endocrj.50.69","article-title":"The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia","volume":"50","author":"Tanaka","year":"2003","journal-title":"Endocr J"},{"key":"10.1016\/j.ando.2017.04.011_bib0160","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1111\/j.1651-2227.1990.tb11557.x","article-title":"Growth and growth hormone therapy in hypochondroplasia","volume":"79","author":"Appan","year":"1990","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/j.ando.2017.04.011_bib0165","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1159\/000369169","article-title":"Growth hormone treatment in patients with hypochondroplasia","volume":"82","author":"Regelmann","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ando.2017.04.011_bib0170","series-title":"GeneReviews\u00ae [Internet]","article-title":"Multiple epiphyseal dysplasia, autosomal dominant","author":"Briggs","year":"1993"},{"key":"10.1016\/j.ando.2017.04.011_bib0175","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1136\/jmg.38.11.745","article-title":"Acromicric dysplasia: long-term outcome and evidence of autosomal dominant inheritance","volume":"38","author":"Faivre","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.ando.2017.04.011_bib0180","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1210\/jc.2006-1497","article-title":"Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity","volume":"92","author":"Long","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2017.04.011_bib0185","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000452973","article-title":"Safety outcomes and near-adult height gain of growth hormone-treated children with SHOX deficiency: data from an observational study and a clinical trial","volume":"87","author":"Benabbad","year":"2017","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ando.2017.04.011_bib0190","doi-asserted-by":"crossref","first-page":"3140","DOI":"10.1210\/jc.2003-031457","article-title":"Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: a randomized, double-blind, placebo-controlled trial","volume":"89","author":"Leschek","year":"2004","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426617300355?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426617300355?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T22:49:30Z","timestamp":1757717370000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426617300355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S0003426617300355"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2017.04.011","relation":{},"ISSN":["0003-4266"],"issn-type":[{"value":"0003-4266","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bone dysplasia","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2017.04.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}