{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:58:55Z","timestamp":1785164335027,"version":"3.55.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T00:00:00Z","timestamp":1785110400000},"content-version":"vor","delay-in-days":26,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background: Pycnodysostosis is a rare genetic bone disorder linked to mutations in the CTSK gene, which causes osteoclast dysfunction. We report the case of a child with pycnodysostosis complicated by severe obstructive sleep apnea syndrome (OSAS). Case presentation: The patient was a 9-years-old girl born to consanguineous parents. Clinical examination revealed short stature, characteristic facial features, acromicria, and several skeletal abnormalities. X-rays revealed diffuse osteosclerosis associated with bone abnormalities characteristic of pycnodysostosis. Polysomnography confirmed severe OSA, with an apnea-hypopnea index (AHI) of 49.8 events per hour. Conclusion: This observation highlights the association between pycnodysostosis and nocturnal respiratory impairment, and underscores the importance of systematic screening for sleep-disordered breathing by polysomnography in these patients. Management is based on a multidisciplinary approach and long-term follow-up in order to optimize the functional prognosis and quality of life of patients and their families.<\/jats:p>","DOI":"10.1093\/omcr\/omag141","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:41:50Z","timestamp":1784288510000},"source":"Crossref","is-referenced-by-count":0,"title":["Pediatric pycnodysostosis complicated by severe obstructive sleep apnea: a case report"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5694-5049","authenticated-orcid":false,"given":"Islam","family":"Tarik","sequence":"first","affiliation":[{"name":"Department of Pediatric Infectious Diseases and Pneumo-Allergology \u2013 Pediatric I \u2013 Children\u2019s Hospital of Rabat, University Hospital Center Ibn Sina , Rabat ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Makhloufi","sequence":"additional","affiliation":[{"name":"Pediatric Translational Clinical Research Unit, Biotechnology lab (MedBiotech) Bioinova Research Center, Medical and Pharmacy School, Mohammed V University in Rabat , Rabat ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chafiq","family":"Mahraoui","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases and Pneumo-Allergology \u2013 Pediatric I \u2013 Children\u2019s Hospital of Rabat, University Hospital Center Ibn Sina , Rabat ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naima","family":"El Hafidi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases and Pneumo-Allergology \u2013 Pediatric I \u2013 Children\u2019s Hospital of Rabat, University Hospital Center Ibn Sina , Rabat ,","place":["Morocco"]},{"name":"Pediatric Translational Clinical Research Unit, Biotechnology lab (MedBiotech) Bioinova Research Center, Medical and Pharmacy School, Mohammed V University in Rabat , Rabat ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,27]]},"reference":[{"key":"2026072710003525200_ref1","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1016\/j.lpm.2015.09.003","article-title":"La pycnodysostose, \u00e0 propos d\u2019un cas","volume":"44","author":"Nassar","year":"2015","journal-title":"Presse Med"},{"key":"2026072710003525200_ref2","doi-asserted-by":"publisher","first-page":"116674","DOI":"10.1016\/j.bone.2023.116674","article-title":"Pycnodysostosis in children and adults","volume":"169","author":"Hald","year":"2023","journal-title":"Bone."},{"key":"2026072710003525200_ref3","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.3390\/genes12101552","article-title":"Genetic and molecular evaluation: reporting three novel mutations and creating awareness of Pycnodysostosis disease","volume":"12","author":"Sayed Amr","year":"2021","journal-title":"Genes (Basel)"},{"key":"2026072710003525200_ref4","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00433","article-title":"Cathepsin K: the action in and beyond bone","volume":"8","author":"Dai","year":"2020","journal-title":"Front Cell Dev Biol"},{"key":"2026072710003525200_ref5","doi-asserted-by":"publisher","first-page":"102430","DOI":"10.1016\/j.jormas.2025.102430","article-title":"Oral and maxillofacial manifestations of Pycnodysostosis: a summary of clinical, radiological and cephalometric diagnostic criteria. A systematic review","volume":"126","author":"Bovis","year":"2025","journal-title":"J Stomatol Oral Maxillofac Surg"},{"key":"2026072710003525200_ref6","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1002\/ajmg.a.61393","article-title":"Sleep-disordered breathing in children with pycnodysostosis","volume":"182","author":"Khirani","year":"2020","journal-title":"Am J Med Genet A"},{"key":"2026072710003525200_ref7","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1007\/s11325-010-0479-4","article-title":"Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy","volume":"16","author":"Della Marca","year":"2012","journal-title":"Sleep Breath"},{"key":"2026072710003525200_ref8","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin Genet"},{"key":"2026072710003525200_ref9","doi-asserted-by":"publisher","first-page":"102337","DOI":"10.1016\/j.rmcr.2025.102337","article-title":"Pycnodysostosis and obstructive sleep apnea: observations on 10 cases","volume":"58","author":"Bouhamdi","year":"2025","journal-title":"Respir Med Case Rep"},{"key":"2026072710003525200_ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2025.1517840","article-title":"Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review","volume":"16","author":"Alsagheir","year":"2025","journal-title":"Front Endocrinol"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2026\/7\/omag141\/70166253\/omag141.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2026\/7\/omag141\/70166253\/omag141.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:00:43Z","timestamp":1785160843000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omag141\/8742395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7,8]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omag141","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,7]]},"published":{"date-parts":[[2026,7]]},"article-number":"omag141"}}