{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:27:41Z","timestamp":1790375261411,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T00:00:00Z","timestamp":1561420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro\u2010osteolysis, facial features and an increased risk of fractures. The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow\u2010up. French physicians from the OSCAR network have been asked to fill out questionnaires collecting molecular and clinical data for 27 patients issued from 17 unrelated families. All patients showed short stature (mean = \u22123.5 SD) which was more severe in females (\n                    <jats:italic>P<\/jats:italic>\n                    =\u2009.006). The mean fracture rate was moderate (0.21 per year), with four fractures in total average. About 75% underwent at least one surgery, with an average number of 2.1 interventions per patient. About 50% required non\u2010invasive assisted ventilation due to sleep apnea (67%). About 29% showed psychomotor difficulties and 33% needed a school assistant or adapted schooling. No patient had any psychological evaluation or follow\u2010up. Molecular data were available for 14 families. Growth hormone administration was efficient on linear growth in 40% of cases. We propose several axis of management, such as systematic cerebral MRI for Chiari malformation screening at diagnosis and regular psychological follow\u2010up.\n                  <\/jats:p>","DOI":"10.1111\/cge.13591","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T16:33:57Z","timestamp":1561480437000},"page":"309-316","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6335-7419","authenticated-orcid":false,"given":"Varoona","family":"Bizaoui","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University INSERM UMR 1163, Instititut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University INSERM UMR 1163, Instititut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University INSERM UMR 1163, Instititut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Amouroux","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Arnaud de Villeneuve Hospital  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"Genetics Department, AP\u2010HP Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Cohen\u2010Solal","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Lariboisi\u00e8re Hospital INSERM U1132 and University Paris\u2010Diderot  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"Department of Biochemistry APHP, Saint\u2010Louis Lariboisi\u00e8re Hospitals  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence CLAD NdF, Service de G\u00e9n\u00e9tique Clinique H\u00f4pital Jeanne de Flandre  CHU Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique et du D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Maladies Rares et M\u00e9decine Personnalis\u00e9e, Centre de Comp\u00e9tence Maladies Osseuses Constitutionnelles, Inserm U1183 Universit\u00e9 Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Monnot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University INSERM UMR 1163, Instititut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Rossi","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement  Bron France"},{"name":"Centre de Recherche en Neurosciences de Lyon INSERM U1028, CNRS UMR5292, UCB Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Bic\u00eatre Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University INSERM UMR 1163, Instititut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,8]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"999","article-title":"Pyknodysostosis","volume":"70","author":"Maroteaux P","year":"1962","journal-title":"Press 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Pycnodysostose r\u00e9v\u00e9l\u00e9e par un stridor atypique s\u00e9rie de cas et revue de la litt\u00e9rature.http:\/\/www.em-consulte.com\/en\/article\/839258. Accessed June 7 2017."},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12204"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcot.2016.09.006"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00264-016-3257-5"},{"issue":"3","key":"e_1_2_9_16_1","first-page":"e179\u2010e183","article-title":"Multiple long bone fractures in a child with pycnodysostosis. A case report","volume":"114","author":"Rojas PI","year":"2016","journal-title":"Arch Argent Pediatr"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.51B2.307"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2013-200590"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1051\/mbcb\/2015032"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1597\/12-233"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.1991.tb00319.x"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0169857"},{"issue":"2","key":"e_1_2_9_23_1","first-page":"43","article-title":"Short stature revealing a pycnodysostosis: a case report","volume":"6","author":"Aynaou H","year":"2016","journal-title":"J Orthop Case Rep"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.4076\/1757-1626-2-6544"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.202.620"},{"issue":"11","key":"e_1_2_9_26_1","first-page":"3915","article-title":"Molecular and clinical analysis in a series of patients with pyknodysostosis reveals some uncommon phenotypic findings","volume":"7","author":"Valdes\u2010Flores M","year":"2014","journal-title":"Int J Clin Exp Med"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.014"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.75.3.242"},{"issue":"2","key":"e_1_2_9_29_1","first-page":"161","article-title":"Effect of growth hormone treatment on height velocity of children with pycnodysotosis","volume":"24","author":"Karamizadeh Z","year":"2014","journal-title":"Iran J Pediatr"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02400.x"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9490"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI653"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.1.6247"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000128"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40001-016-0228-7"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13591","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13591","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13591","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13591","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T10:23:22Z","timestamp":1694255002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,8]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1111\/cge.13591"],"URL":"https:\/\/doi.org\/10.1111\/cge.13591","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13591\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13591\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,8]]},"assertion":[{"value":"2019-03-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}