{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:05:09Z","timestamp":1753891509866,"version":"3.41.2"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis, broad thumbs and big toes, and partial syndactyly of the hands and feet. This case report presents the case of a girl diagnosed with type 2 Pfeiffer syndrome who experienced severe obstructive sleep apnea (OSA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>The patient had been using an oropharyngeal airway since the age of 4 months due to snoring and witnessed apnea during sleep. At 11\u2009months old, she was referred to our sleep clinic because of growth limitation and gross motor ability issues. Polysomnography (PSG) showed severe obstructive hypopnea before any treatment, and revealed severe central sleep apnea with the oropharyngeal airway in place. Positive airway pressure (PAP) therapy was initiated, which improved both her sleep and gross motor ability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case report emphasizes the importance of thorough sleep studies for diagnosing sleep and breathing disorders in Pfeiffer syndrome patients and highlights the effectiveness of PAP therapy in managing these conditions.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2023.1337236","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T11:27:28Z","timestamp":1704972448000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: A girl with witnessed sleep apnea"],"prefix":"10.3389","volume":"14","author":[{"given":"Shuai","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waner","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyue","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,1,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.ejpn.2012.09.009","article-title":"Genetic causes of syndromic craniosynostoses","volume":"17","author":"Jezela-Stanek","year":"2013","journal-title":"Eur J Paediatr Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/1750-1172-1-19","article-title":"Pfeiffer syndrome","volume":"1","author":"Vogels","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1097\/SCS.0b013e31816ae386","article-title":"The role of the nasopharyngeal airway for obstructive sleep apnea in syndromic craniosynostosis","volume":"19","author":"Ahmed","year":"2008","journal-title":"J Craniofac Surg"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1097\/PRS.0b013e3181a2057e","article-title":"Pfeiffer syndrome: a treatment evaluation","volume":"123","author":"Fearon","year":"2009","journal-title":"Plast Reconstr Surg"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/j.ijom.2008.04.006","article-title":"Advancement of the midface, from conventional Le fort III osteotomy to Le fort III distraction: review of the literature","volume":"37","author":"Nout","year":"2008","journal-title":"Int J Oral Maxillofac Surg"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.ijom.2009.11.021","article-title":"Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement","volume":"39","author":"Bannink","year":"2010","journal-title":"Int J Oral Maxillofac Surg"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.ijom.2015.10.003","article-title":"The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis","volume":"45","author":"Inverso","year":"2016","journal-title":"Int J Oral Maxillofac Surg"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1136\/archdischild-2012-302745","article-title":"How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study","volume":"98","author":"Driessen","year":"2013","journal-title":"Arch Dis Child"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1700985","DOI":"10.1183\/13993003.00985-2017","article-title":"ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children","volume":"50","author":"Kaditis","year":"2017","journal-title":"Eur Respir J"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1164\/rccm.200412-1631SO","article-title":"Pathogenesis of obstructive and central sleep apnea","volume":"172","author":"White","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1378\/chest.06.2287","article-title":"Central sleep apnea: pathophysiology and treatment","volume":"131","author":"Eckert","year":"2007","journal-title":"Chest"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1097\/00006534-199009000-00011","article-title":"Obstructive sleep apnea in Apert's and Pfeiffer's syndromes: more than a craniofacial abnormality","volume":"86","author":"Mixter","year":"1990","journal-title":"Plast Reconstr Surg"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"S59","DOI":"10.1016\/s0165-5876(99)00134-2","article-title":"Management of obstructive sleep apnea syndrome in children with craniofacial malformation","volume":"49","author":"Hoeve","year":"1999","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1016\/j.chest.2020.08.020","article-title":"Positive airway pressure for the treatment of OSA in infants","volume":"159","author":"Cielo","year":"2021","journal-title":"Chest"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"824","DOI":"10.3390\/children8090824","article-title":"The link between pediatric obstructive sleep apnea (OSA) and attention deficit hyperactivity disorder (ADHD)","volume":"8","author":"Urbano","year":"2021","journal-title":"Children"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1542\/peds.86.2.294","article-title":"Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management","volume":"86","author":"Bull","year":"1990","journal-title":"Pediatrics"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1337236\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T11:27:30Z","timestamp":1704972450000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1337236\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,11]]},"references-count":16,"alternative-id":["10.3389\/fneur.2023.1337236"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2023.1337236","relation":{},"ISSN":["1664-2295"],"issn-type":[{"type":"electronic","value":"1664-2295"}],"subject":[],"published":{"date-parts":[[2024,1,11]]},"article-number":"1337236"}}