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The aim of our study was to analyze sleep\u2010disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10\u2009years was performed. Six patients had severe OSA and\/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4\u2009\u00b1\u20092.6\u2009years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow\u2010up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep\u2010disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA.<\/jats:p>","DOI":"10.1002\/ajmg.a.61393","type":"journal-article","created":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T07:29:57Z","timestamp":1572852597000},"page":"122-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Sleep\u2010disordered breathing in children with pycnodysostosis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4163-5021","authenticated-orcid":false,"given":"Sonia","family":"Khirani","sequence":"first","affiliation":[{"name":"Pediatric Noninvasive Ventilation and Sleep Unit, AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit  Paris France"},{"name":"ASV Sant\u00e9  Gennevilliers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Amaddeo","sequence":"additional","affiliation":[{"name":"Pediatric Noninvasive Ventilation and Sleep Unit, AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit  Paris France"},{"name":"EA 7330 VIFASOM (Vigilance Fatigue Sommeil et Sant\u00e9 Publique), Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[{"name":"AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Genetics Department National Reference Centre for Skeletal Dysplasia, INSERM UMR 1163, University Paris Descartes\u2010Sorbonne Paris Cit\u00e9, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[{"name":"AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Genetics Department National Reference Centre for Skeletal Dysplasia, INSERM UMR 1163, University Paris Descartes\u2010Sorbonne Paris Cit\u00e9, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Couloigner","sequence":"additional","affiliation":[{"name":"Pediatric Head and Neck Surgery and Otorhinolaryngology Department AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Head and Neck Surgery and Otorhinolaryngology  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Pinto","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Endocrinology  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery Department AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Neurosurgery, Centre de r\u00e9f\u00e9rence des malformations craniofaciales\u2014CRMR CRANIOST  Paris France"},{"name":"Clinique Marcel Sembat, Ramsay G\u00e9n\u00e9rale de Sant\u00e9  Boulogne Billancourt France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Picard","sequence":"additional","affiliation":[{"name":"Pediatric Maxillofacial and Plastic Surgery Department AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Pediatric Maxillofacial and Plastic Surgery  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"AP\u2010HP, H\u00f4pital Necker\u2010Enfants malades, Genetics Department National Reference Centre for Skeletal Dysplasia, INSERM UMR 1163, University Paris Descartes\u2010Sorbonne Paris Cit\u00e9, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6092-2662","authenticated-orcid":false,"given":"Brigitte","family":"Fauroux","sequence":"additional","affiliation":[{"name":"ASV Sant\u00e9  Gennevilliers France"},{"name":"EA 7330 VIFASOM (Vigilance Fatigue Sommeil et Sant\u00e9 Publique), Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,3]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"307","article-title":"Sleep apnea and short stature revealing pycnodysostosis","volume":"20","author":"Abourazzaka S.","year":"2013","journal-title":"Archives de P\u00e9diatrie"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00572773"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.02.009"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.5664\/jcsm.2172"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-303760"},{"key":"e_1_2_8_7_1","first-page":"105","article-title":"Pyknodysostosis: Extreme cause of sleep apnea","volume":"5","author":"Augustin J. 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