{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:39:25Z","timestamp":1780472365286,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3\u00bd\u2010year\u2010old girl affected by Pycnodysostosis complicated by a severe sleep\u2010related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo\u2010mandibular surgery. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36557","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:48:35Z","timestamp":1396993715000},"page":"2029-2035","source":"Crossref","is-referenced-by-count":21,"title":["Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review"],"prefix":"10.1002","volume":"164","author":[{"given":"Elisa","family":"Testani","sequence":"first","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Scarano","sequence":"additional","affiliation":[{"name":"Institute of Otorhinolaryngology Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Dittoni","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Losurdo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Colicchio","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gnoni","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catello","family":"Vollono","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Paludetti","sequence":"additional","affiliation":[{"name":"Institute of Otorhinolaryngology Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo Della","family":"Marca","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2012.12.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/02724939992419"},{"key":"e_1_2_5_4_1","volume-title":"The international classification of sleep disorders\u2014Diagnostic and coding manual","author":"American Academy of Sleep Medicine","year":"2005"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00572773"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3491"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)36806-7"},{"key":"e_1_2_5_8_1","first-page":"105","article-title":"Pyknodysostosis: Extreme cause of sleep apnea","volume":"5","author":"de Agust\u00ecn JC","year":"1992","journal-title":"Cir Pediatr"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11325-010-0479-4"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.51B2.307"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/PCC.0b013e3181b80ab4"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-61-724-322"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2007.05.011"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/019459988108900609"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5279.1236"},{"key":"e_1_2_5_16_1","first-page":"bcr2013200590","article-title":"Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: Management of a complex case","author":"Girbal I","year":"2013","journal-title":"BMJ"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0278-2391(98)90722-4"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-1672"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(91)90559-U"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2004.10.024"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1974.tb04824.x"},{"key":"e_1_2_5_22_1","first-page":"204","article-title":"Pycnodysostosis: Orofacial manifestations in two pediatric patients","volume":"20","author":"O'Connell AC","year":"1998","journal-title":"Pediatr Dent"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-007-0475-6"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1678-77572011000600007"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31829978a5"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/6.4.303"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1597\/06-199.1"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.02.048"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-3692(15)50899-4"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973678"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36557","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36557","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:30:14Z","timestamp":1696570214000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,8]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36557"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36557","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,8]]}}}