{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T18:21:27Z","timestamp":1778523687936,"version":"3.51.4"},"reference-count":166,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["NV17-30439A"],"award-info":[{"award-number":["NV17-30439A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011659","name":"Faculty of Medicine Masaryk University Brno","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic \u2013 RVO","doi-asserted-by":"publisher","award":["65269705"],"award-info":[{"award-number":["65269705"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"European Union\u2019s Horizon 2020 Research and Innovation Programme","doi-asserted-by":"publisher","award":["857560"],"award-info":[{"award-number":["857560"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministry of Education, Youth and Sports","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Pediatric obstructive sleep apnea (POSA) is a complex disease with multifactorial etiopathogenesis. The presence of craniofacial dysmorphisms influencing the patency of the upper airway is considered a risk factor for POSA development. The craniofacial features associated with sleep-related breathing disorders (SRBD) \u2013 craniosynostosis, retrognathia and micrognathia, midface and maxillary hypoplasia \u2013 have high heritability and, in a less severe form, could be also found in non-syndromic children suffering from POSA. As genetic factors play a role in both POSA and craniofacial dysmorphisms, we hypothesize that some genes associated with specific craniofacial features that are involved in the development of the orofacial area may be also considered candidate genes for POSA. The genetic background of POSA in children is less explored than in adults; so far, only one genome-wide association study for POSA has been conducted; however, children with craniofacial disorders were excluded from that study. In this narrative review, we discuss syndromes that are commonly associated with severe craniofacial dysmorphisms and a high prevalence of sleep-related breathing disorders (SRBD), including POSA. We also summarized information about their genetic background and based on this, proposed 30 candidate genes for POSA affecting craniofacial development that may play a role in children with syndromes, and identified seven of these genes that were previously associated with craniofacial features risky for POSA development in non-syndromic children. The evidence-based approach supports the proposition that variants of these candidate genes could lead to POSA phenotype even in these children, and, thus, should be considered in future research in the general pediatric population.<\/jats:p>","DOI":"10.3389\/fped.2023.1117493","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T15:46:48Z","timestamp":1687880808000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms \u2013 a narrative review"],"prefix":"10.3389","volume":"11","author":[{"given":"Zuzana","family":"Marincak Vrankova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Krivanek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zdenek","family":"Danek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiri","family":"Zelinka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena","family":"Brysova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"Izakovicova Holla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"James K.","family":"Hartsfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Borilova Linhartova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s40463-020-0404-1","article-title":"Risk factors of obstructive sleep apnea syndrome in children","volume":"49","author":"Xu","year":"2020","journal-title":"J Otolaryngol Head Neck Surg"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.3389\/fped.2022.900216","article-title":"Analysis of the risk factors associated with obstructive sleep apnea syndrome in Chinese children","volume":"10","author":"Xiao","year":"2022","journal-title":"Front Pediatr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1164\/rccm.201512-2431OC","article-title":"Genetic associations with obstructive sleep apnea traits in hispanic\/latino Americans","volume":"194","author":"Cade","year":"2016","journal-title":"Am J Respir Crit Care Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"e1002932","DOI":"10.1371\/journal.pgen.1002932","article-title":"A genome-wide association study identifies five loci influencing facial morphology in Europeans","volume":"8","author":"Liu","year":"2012","journal-title":"PLoS Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12920-020-00755-4","article-title":"Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records","volume":"13","author":"Veatch","year":"2020","journal-title":"BMC Med Genomics"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/zsac182","article-title":"Identification of novel loci in obstructive sleep apnea in European American and African American children","author":"Quinlan","year":"2022","journal-title":"Sleep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1089\/ars.2011.4189","article-title":"Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for nadph oxidase P22 subunit gene polymorphisms?","volume":"16","author":"Gozal","year":"2012","journal-title":"Anttioxid Redox Signal"},{"key":"B8","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1016\/j.sleep.2010.12.014","article-title":"Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea","volume":"12","author":"Bhushan","year":"2011","journal-title":"Sleep Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1002\/ppul.22560","article-title":"Macrophage migration inhibitory factor gene polymorphisms and plasma levels in children with obstructive sleep apnea","volume":"47","author":"Khalyfa","year":"2012","journal-title":"Pediatric Pulmonol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/s1474-4422(02)00103-5","article-title":"The genetics of sleep disorders","volume":"1","author":"Taheri","year":"2002","journal-title":"Lancet Neurol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"119","DOI":"10.2174\/138920209787846998","article-title":"Obstructive sleep apnea syndrome: from phenotype to genetic basis","volume":"10","author":"Casale","year":"2009","journal-title":"Curr Genomics"},{"key":"B12","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/s1389-9457(01)00098-3","article-title":"Genetics, control of breathing, and sleep-disordered breathing: a review","volume":"2","author":"Gaultier","year":"2001","journal-title":"Sleep Med"},{"key":"B13","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1053\/smrv.2000.0120","article-title":"The genetics of sleep apnea","volume":"4","author":"Redline","year":"2000","journal-title":"Sleep Med Rev"},{"key":"B14","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1111\/j.1365-2869.2007.00599.x","article-title":"The relationship between craniofacial anatomy and obstructive sleep apnoea: a case-controlled study","volume":"16","author":"Johal","year":"2007","journal-title":"J Sleep Res"},{"key":"B15","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1590\/2177-6709.20.6.060-067.oar","article-title":"Facial morphology and obstructive sleep apnea","volume":"20","author":"Capistrano","year":"2015","journal-title":"Dental Press J Orthod"},{"key":"B16","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.smrv.2017.06.008","article-title":"From oral facial dysfunction to dysmorphism and the onset of pediatric OSA","volume":"40","author":"Guilleminault","year":"2018","journal-title":"Sleep Med Rev"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.15331\/jdsm.7084","article-title":"OSA prevalence in a general pediatric craniofacial population","volume":"6","author":"Canepa","year":"2019","journal-title":"J Dent Sleep Med"},{"key":"B18","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/s11325-011-0504-2","article-title":"The nasomaxillary complex, the mandible, and sleep-disordered breathing","volume":"15","author":"Kim","year":"2011","journal-title":"Sleep Breath"},{"key":"B19","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1111\/apa.16202","article-title":"Specific dento-craniofacial characteristics in non-syndromic children can predispose to sleep-disordered breathing","volume":"111","author":"Hansen","year":"2022","journal-title":"Acta Paediatr"},{"key":"B20","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/0007-1226(93)90039-e","article-title":"Upper airway obstruction in the syndromal craniosynostoses","volume":"46","author":"Moore","year":"1993","journal-title":"Br J Plast Surg"},{"key":"B21","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 Orral Maxillofac Surg"},{"key":"B22","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.jds.2019.09.005","article-title":"Craniofacial, dental arch morphology, and characteristics in preschool children with mild obstructive sleep apnea","volume":"15","author":"Lee","year":"2020","journal-title":"J Dent Sci"},{"key":"B23","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1016\/j.ajodo.2013.08.015","article-title":"Craniofacial and upper airway morphology in pediatric sleep-disordered breathing and changes in quality of life with rapid maxillary expansion","volume":"144","author":"Katyal","year":"2013","journal-title":"Am J Orthod Dentofacial Orthop"},{"key":"B24","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.smrv.2015.05.010","article-title":"Craniofacial syndromes and sleep-related breathing disorders","volume":"27","author":"Tan","year":"2016","journal-title":"Sleep Med Rev"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.5664\/jcsm.9904","article-title":"Craniofacial features in children with obstructive sleep apnea: a systematic review and meta-analysis","volume":"18","author":"Fagundes","year":"2022","journal-title":"J Clin Sleep Med"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.5664\/jcsm.8370","article-title":"Prevalence of sleep-disordered breathing and associations with malocclusion in children","volume":"16","author":"Aroucha Lyra","year":"2020","journal-title":"JJ Clin Sleep Med"},{"key":"B27","first-page":"181","article-title":"Craniofacial morphology in preschool children with obstructive sleep apnoea syndrome","volume":"10","author":"Marino","year":"2009","journal-title":"Eur J Paediatr Dent"},{"key":"B28","first-page":"125","article-title":"Habitual snoring, OSA and craniofacial modification. Orthodontic clinical and diagnostic aspects in a case control study","volume":"48","author":"Caprioglio","year":"1999","journal-title":"Minerva Stomatol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1177\/014556130007900708","article-title":"Cephalometric comparisons of craniofacial and upper airway structures in young children with obstructive sleep apnea syndrome","volume":"79","author":"Kawashima","year":"2000","journal-title":"Ear Nose Throat J"},{"key":"B30","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1183\/09031936.99.13241199","article-title":"Craniofacial modifications in children with habitual snoring and obstructive sleep apnoea: a case-control study","volume":"13","author":"Zucconi","year":"1999","journal-title":"Eur Respir J"},{"key":"B31","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1590\/2176-9451.20.3.080-087.oar","article-title":"Craniofacial changes and symptoms of sleep-disordered breathing in healthy children","volume":"20","author":"Pacheco","year":"2015","journal-title":"Dental Press J Orthod"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/08869634.2022.2080960","article-title":"Sleep disordered breathing and oral health-related quality of life in children with different skeletal malocclusions","volume":"40","author":"Coban","year":"2022","journal-title":"Cranio"},{"key":"B33","doi-asserted-by":"publisher","first-page":"184","DOI":"10.3389\/fneur.2012.00184","article-title":"Pediatric obstructive sleep apnea and the critical role of oral-facial growth: evidences","volume":"3","author":"Huang","year":"2012","journal-title":"Front Neurol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1097\/CPM.0b013e3181e4bea7","article-title":"Craniofacial morphology in obstructive sleep apnea: a review","volume":"17","author":"Lee","year":"2010","journal-title":"Clin Pulm Med"},{"key":"B35","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1093\/ejo\/cjp162","article-title":"Cephalometric evaluation of children with nocturnal sleep-disordered breathing","volume":"32","author":"Piril\u00e4-Parkkinen","year":"2010","journal-title":"Eur J Orthod"},{"key":"B36","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1093\/ejo\/cjp162","article-title":"Pathophysiology of childhood obstructive sleep apnea: current concepts","volume":"119","author":"Marcus","year":"2000","journal-title":"Respir Physiol"},{"key":"B37","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1111\/resp.12913","article-title":"Obstructive sleep apnoea pathogenesis from mild to severe: is it all the same?","volume":"22","author":"Edwards","year":"2017","journal-title":"Respirology"},{"key":"B38","doi-asserted-by":"publisher","first-page":"2099","DOI":"10.5664\/jcsm.9352","article-title":"Association between septal deviation and OSA diagnoses: a nationwide 9-year follow-up cohort study","volume":"17","author":"Yeom","year":"2021","journal-title":"J Clin Sleep Med"},{"key":"B39","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1093\/ejo\/cjn061","article-title":"Dental arch morphology in children with sleep-disordered breathing","volume":"31","author":"Piril\u00e4-Parkkinen","year":"2009","journal-title":"Eur J Orthod"},{"key":"B40","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.smrv.2014.11.008","article-title":"Pediatric sleep-disordered breathing: new evidence on its development","volume":"24","author":"Guilleminault","year":"2015","journal-title":"Sleep Med Rev"},{"key":"B41","doi-asserted-by":"publisher","first-page":"00043-2016","DOI":"10.1183\/23120541.00043-2016","article-title":"A frequent phenotype for paediatric sleep apnoea: short lingual frenulum","volume":"2","author":"Guilleminault","year":"2016","journal-title":"ERJ Open Res"},{"key":"B42","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/j.sleep.2019.09.019","article-title":"Short lingual frenulum as a risk factor for sleep-disordered breathing in school-age children","volume":"66","author":"Villa","year":"2020","journal-title":"Sleep Med"},{"key":"B43","doi-asserted-by":"publisher","first-page":"273","DOI":"10.23937\/2469-5769\/1510003","article-title":"Short lingual frenulum and obstructive sleep apnea in children","volume":"1","author":"Huang","year":"2015","journal-title":"Int J Pediatr Res"},{"key":"B44","first-page":"123","article-title":"Glossoptosis","volume-title":"Semin Pediatr Surg","author":"Schweiger","year":"2016"},{"key":"B45","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.prrv.2014.11.003","article-title":"Obstructive sleep apnoea in children with craniofacial syndromes","volume":"16","author":"Cielo","year":"2015","journal-title":"Paediatr Respir Rev"},{"key":"B46","doi-asserted-by":"publisher","first-page":"2098","DOI":"10.1002\/lary.21093","article-title":"Pediatric sleep apnea and craniofacial anomalies: a population-based case\u2013control study","volume":"120","author":"Lam","year":"2010","journal-title":"Laryngoscope"},{"key":"B47","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.ijporl.2005.07.016","article-title":"Sleep disordered breathing in children with achondroplasia. Part 2. relationship with craniofacial and airway morphology","volume":"70","author":"Onodera","year":"2006","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"B48","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1210\/edrv.21.1.0387","article-title":"The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, muenke craniosynostosis, and crouzon syndrome with acanthosis Nigricans","volume":"21","author":"Vajo","year":"2000","journal-title":"Endocr Rev"},{"key":"B49","doi-asserted-by":"publisher","first-page":"343","DOI":"10.21037\/atm.2018.07.13","article-title":"Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders","volume":"6","author":"Zaffanello","year":"2018","journal-title":"Ann Transl Med"},{"key":"B50","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1097\/01.scs.0000157078.53871.11","article-title":"Apert and crouzon syndromes: clinical findings, genes and extracellular matrix","volume":"16","author":"Carinci","year":"2005","journal-title":"J Craniofac Surg"},{"key":"B51","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/sj.ejhg.5201558","article-title":"Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent Fgfr2 mutations accounts for severe forms of pfeiffer syndrome","volume":"14","author":"Lajeunie","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"B52","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1002\/ppul.20673","article-title":"Polysomnographic characteristics in patients with prader\u2013willi syndrome","volume":"42","author":"Lin","year":"2007","journal-title":"Pediatr Pulmonol"},{"key":"B53","doi-asserted-by":"publisher","first-page":"403","DOI":"10.5664\/jcsm.3616","article-title":"Prader willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population","volume":"10","author":"Sedky","year":"2014","journal-title":"J Clin Sleep Med"},{"key":"B54","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s00405-011-1649-0","article-title":"Obstructive sleep apnea in treacher collins syndrome","volume":"269","author":"Akre","year":"2012","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"B55","doi-asserted-by":"publisher","first-page":"382e","DOI":"10.1097\/PRS.0000000000000993","article-title":"Reduced three-dimensional airway volume is a function of skeletal dysmorphology in treacher collins syndrome","volume":"135","author":"Ma","year":"2015","journal-title":"Plast Reconstr Surg"},{"key":"B56","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1378\/chest.108.3.631","article-title":"Sleep apnea in marfan\u2019s syndrome: increased upper airway collapsibility during sleep","volume":"108","author":"Cistulli","year":"1995","journal-title":"Chest"},{"key":"B57","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1002\/ajmg.a.30393","article-title":"Craniofacial structure in marfan syndrome: a cephalometric study","volume":"131","author":"De Coster","year":"2004","journal-title":"Am J Med Genet A"},{"key":"B58","doi-asserted-by":"publisher","first-page":"293","DOI":"10.5664\/jcsm.7636","article-title":"Prevalence of obstructive sleep apnea in joint hypermobility syndrome: a systematic review and meta-analysis","volume":"15","author":"Sedky","year":"2019","journal-title":"J Clin Sleep Med"},{"key":"B59","first-page":"541","article-title":"Glossoptosis due to atresia and hypotrophy of the mandible","volume":"48","author":"Robin","year":"1934","journal-title":"Am J Dis Child"},{"key":"B60","doi-asserted-by":"publisher","first-page":"1503","DOI":"10.1378\/chest.13-0174","article-title":"Sleep-disordered breathing in Ehlers-Danlos syndrome: a genetic model of OSA","volume":"144","author":"Guilleminault","year":"2013","journal-title":"Chest"},{"key":"B61","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1097\/GIM.0b013e3181eed412","article-title":"Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type","volume":"12","author":"Malfait","year":"2010","journal-title":"Genet Med"},{"key":"B62","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1177\/0022034515581643","article-title":"Candidate gene analyses of skeletal variation in malocclusion","volume":"94","author":"da Fontoura","year":"2015","journal-title":"J Dent Res"},{"key":"B63","author":"Hartsfield","year":""},{"key":"B64","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/dvdy.23776","article-title":"Specific inactivation of twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with Hand2","volume":"241","author":"Zhang","year":"2012","journal-title":"Dev Dyn"},{"key":"B65","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/s0022-3476(73)80493-7","article-title":"A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies","volume":"83","author":"Cohen","year":"1973","journal-title":"J Pediatr"},{"key":"B66","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1136\/jmg.40.4.233","article-title":"Diagnostic criteria, clinical characteristics, and natural history of cohen syndrome","volume":"40","author":"Chandler","year":"2003","journal-title":"J Med Genet"},{"key":"B67","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1038\/368703a0","article-title":"Elevated blood pressure and craniofaclal abnormalities in mice deficient in endothelin-1","volume":"368","author":"Kurihara","year":"1994","journal-title":"Nature"},{"key":"B68","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1203\/01.pdr.0000191814.73340.1d","article-title":"Facial phenotype in children and young adults with Phox2b-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology","volume":"59","author":"Todd","year":"2006","journal-title":"Pediatr Res"},{"key":"B69","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s10545-012-9555-1","article-title":"Respiratory and sleep disorders in mucopolysaccharidosis","volume":"36","author":"Berger","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"B70","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/2326409815616392","article-title":"Obstructive sleep apnea in mps: a systematic review of pretreatment and posttreatment prevalence and severity","volume":"3","author":"Pal","year":"2019","journal-title":"J Inborn Errors Metab Screen"},{"key":"B71","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.prrv.2013.02.009","article-title":"Respiratory difficulties and breathing disorders in achondroplasia","volume":"14","author":"Afsharpaiman","year":"2013","journal-title":"Paediatr Respir Rev"},{"key":"B72","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1016\/j.ijom.2012.01.018","article-title":"Obstructive sleep apnoea in treacher collins syndrome: prevalence, severity and cause","volume":"41","author":"Plomp","year":"2012","journal-title":"Int J Oral Maxillofac Surg"},{"key":"B73","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1080\/00016480310015362","article-title":"Sleep apnea and down\u2019s syndrome","volume":"123","author":"Dahlqvist","year":"2003","journal-title":"Acta Otolaryngol"},{"key":"B74","first-page":"1023","article-title":"Obesity is an important risk factor for sleep disordered breathing in children with down syndrome","volume":"27","author":"Ng","year":"2004","journal-title":"Sleep"},{"key":"B75","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.smrv.2011.10.003","article-title":"Sleep measurement and monitoring in children with down syndrome: a review of the literature, 1960\u20132010","volume":"16","author":"Churchill","year":"2012","journal-title":"Sleep Med Rev"},{"key":"B76","doi-asserted-by":"publisher","first-page":"25","DOI":"10.4103\/1817-1737.197770","article-title":"Polysomnographic findings in infants with pierre robin sequence","volume":"12","author":"Khayat","year":"2017","journal-title":"Ann Thor Med"},{"key":"B77","doi-asserted-by":"publisher","first-page":"623","DOI":"10.5664\/jcsm.7058","article-title":"Sleep disorders and their management in children with Ehlers-Danlos syndrome referred to sleep clinics","volume":"14","author":"Domany","year":"2018","journal-title":"J Clin Sleep Med"},{"key":"B78","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1159\/000494328","article-title":"Obstructive sleep apnoea in children and adolescents with Ehlers-Danlos syndrome","volume":"97","author":"St\u00f6berl","year":"2019","journal-title":"Respiration"},{"key":"B79","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1597\/1545-1569_1997_034_0135_amicwc_2.3.co_2","article-title":"Airway management in children with craniofacial anomalies","volume":"34","author":"Perkins","year":"1997","journal-title":"Cleft Palate- Craniofac J"},{"key":"B80","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1002\/ajmg.a.30883","article-title":"Auriculo-condylar syndrome is associated with highly Variable ear and mandibular defects in multiple kindreds","volume":"138","author":"Storm","year":"2005","journal-title":"Am J Med Genet A"},{"key":"B81","doi-asserted-by":"publisher","first-page":"261","DOI":"10.5664\/jcsm.6948","article-title":"Obstructive sleep apnea in patients with congenital central hypoventilation syndrome ventilated by diaphragm pacing without tracheostomy","volume":"14","author":"Wang","year":"2018","journal-title":"J Clin Sleep Med"},{"key":"B82","doi-asserted-by":"publisher","first-page":"825","DOI":"10.5664\/jcsm.6626","article-title":"Severe obstructive sleep apnea in a child with goldenhar syndrome and nasal obstruction","volume":"13","author":"Abraham","year":"2017","journal-title":"J Clin Sleep Med"},{"key":"B83","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1016\/j.ijporl.2014.12.024","article-title":"Sleep characteristics in goldenhar syndrome","volume":"79","author":"Baugh","year":"2015","journal-title":"Int J Pediatf Otorhinolaryngol"},{"key":"B84","first-page":"1147","article-title":"Obstructive sleep apnea in children","volume":"69","author":"Chan","year":"2004","journal-title":"Am Fam Physician"},{"key":"B85","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.ijporl.2008.11.004","article-title":"Oculoauriculovertebral Complex with an atypical cause of obstructive sleep apnea","volume":"73","author":"Kourelis","year":"2009","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"B86","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1136\/jmg.36.5.353","article-title":"Clinical and molecular genetics of stickler syndrome","volume":"36","author":"Snead","year":"1999","journal-title":"J Med Genet"},{"key":"B87","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1016\/j.joms.2009.09.099","article-title":"Mandibular distraction osteogenesis for pediatric airway management","volume":"68","author":"Miloro","year":"2010","journal-title":"J Oral Maxillofac Surg"},{"key":"B88","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/s13353-017-0423-4","article-title":"Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling","volume":"59","author":"Kutkowska-Ka\u017amierczak","year":"2018","journal-title":"J Appl Genet"},{"key":"B89","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1007\/s11325-012-0706-2","article-title":"Sleep-disordered breathing in children with craniosynostosis","volume":"17","author":"Alsaadi","year":"2013","journal-title":"Sleep Breath"},{"key":"B90","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":"B91","article-title":"Fgfr craniosynostosis syndromes overview","volume-title":"Genereviews\u00ae","author":"Wenger","year":"1993"},{"key":"B92","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1086\/429417","article-title":"Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis","volume":"76","author":"Huang","year":"2005","journal-title":"Am J Hum Genet"},{"key":"B93","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.yexcr.2004.11.012","article-title":"Cell responses to Fgfr3 signalling: growth, differentiation and apoptosis","volume":"304","author":"L\u2019H\u00f4te","year":"2005","journal-title":"Exp Cell Res"},{"key":"B94","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1023\/a:1020914026829","article-title":"Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism","volume":"3","author":"Horton","year":"2002","journal-title":"Rev Endocr Metab Disord"},{"key":"B95","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.7150\/ijbs.22373","article-title":"Fibroblast growth factor receptor 2 (Fgfr2) mutation related syndromic craniosynostosis","volume":"13","author":"Azoury","year":"2017","journal-title":"Int J Biol Sci"},{"key":"B96","first-page":"545","article-title":"Dysostose cranio-faciale hereditair","volume":"33","author":"Crouzon","year":"1912","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"B97","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s004390050584","article-title":"Jackson-Weiss syndrome: identification of two novel Fgfr2 missense mutations shared with crouzon and pfeiffer craniosynostotic disorders","volume":"101","author":"Tartaglia","year":"1997","journal-title":"Hum Genet"},{"key":"B98","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1002\/ajmg.a.32947","article-title":"Novel Fgfr2 deletion in patient with beare-stevenson-like syndrome","volume":"149","author":"Slavotinek","year":"2009","journal-title":"Am J Med Genet A"},{"key":"B99","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1002\/humu.20825","article-title":"Rare mutations of Fgfr2 causing apert syndrome: identification of the first partial gene deletion, and an alu element insertion from a new subfamily","volume":"30","author":"Bochukova","year":"2009","journal-title":"Hum Mutat"},{"key":"B100","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1111\/j.1601-6343.2007.00393.x","article-title":"Genetic analysis of non-syndromic craniosynostosis","volume":"10","author":"Boyadjiev","year":"2007","journal-title":"Orthod Craniofac Res"},{"key":"B101","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1002\/ajmg.a.38159","article-title":"Genetic advances in craniosynostosis","volume":"173","author":"Lattanzi","year":"2017","journal-title":"Am J Med Genet A"},{"key":"B102","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ejhg.2010.235","article-title":"Craniosynostosis","volume":"19","author":"Johnson","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"B103","doi-asserted-by":"publisher","first-page":"105389","DOI":"10.1016\/j.archoralbio.2022.105389","article-title":"Craniomaxillofacial morphology in a murine model of Ephrinb1 conditional deletion in osteoprogenitor cells","volume":"137","author":"Bereza","year":"2022","journal-title":"Arch I Oral Biol"},{"key":"B104","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1111\/j.1469-7580.2005.00475.x.","article-title":"Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies","volume":"207","author":"Morriss-Kay","year":"2005","journal-title":"J Anat"},{"key":"B105","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201879","article-title":"Fgfr3 overactivation in the brain is responsible for memory impairments in crouzon syndrome mouse model","volume":"219","author":"Cornille","year":"2022","journal-title":"J Exp Med"},{"key":"B106","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng0795-357","article-title":"A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia","volume":"10","author":"Bellus","year":"1995","journal-title":"Nat Genet"},{"key":"B107","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.archoralbio.2017.10.022","article-title":"Extensive phenotyping of the orofacial and dental complex in crouzon syndrome","volume":"86","author":"Khominsky","year":"2018","journal-title":"Arch Oral Biol"},{"key":"B108","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1002\/ajmg.a.62096","article-title":"Clarity: co-occurrences in achondroplasia\u2014craniosynostosis, seizures, and decreased risk of diabetes mellitus","volume":"185","author":"Legare","year":"2021","journal-title":"Am J Med Genet A"},{"key":"B109","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1750-1172-2-4","article-title":"Noonan syndrome","volume":"2","author":"van der Burgt","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"B110","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/S0968-0004(03)00091-4","article-title":"The \u2019Shp\u2019ing news: Sh2 domain-containing tyrosine phosphatases in cell signaling","volume":"28","author":"Neel","year":"2003","journal-title":"Trends Bochem Sci"},{"key":"B111","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1136\/jmg.24.1.9","article-title":"Noonan syndrome","volume":"24","author":"Allanson","year":"1987","journal-title":"J Med Genet"},{"key":"B112","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/j.ajodo.2015.09.032","article-title":"Correction of a severe class ii malocclusion in a patient with noonan syndrome","volume":"150","author":"Cardiel R\u00edos","year":"2016","journal-title":"Am J Orthod Dentofacial Orthop"},{"key":"B113","doi-asserted-by":"publisher","first-page":"2346","DOI":"10.1002\/ajmg.a.38337","article-title":"Craniosynostosis in patients with rasopathies: accumulating clinical evidence for expanding the phenotype","volume":"173","author":"Ueda","year":"2017","journal-title":"Am J Med Genet A"},{"key":"B114","doi-asserted-by":"publisher","first-page":"2869","DOI":"10.1002\/ajmg.a.36705","article-title":"Severe craniosynostosis with noonan syndrome phenotype associated with Shoc2 mutation: clinical evidence of crosslink between Fgfr and Ras signaling pathways","author":"Takenouchi","year":"2014","journal-title":"Am J Med Genet A"},{"key":"B115","doi-asserted-by":"publisher","first-page":"2657","DOI":"10.1002\/ajmg.a.37259","article-title":"Craniosynostosis and noonan syndrome with kras mutations: expanding the phenotype with a case report and review of the literature","author":"Addissie","year":"2015","journal-title":"Am J Med Genet A"},{"key":"B116","doi-asserted-by":"publisher","first-page":"3309","DOI":"10.21037\/tp-21-499","article-title":"Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report","volume":"10","author":"Li","year":"2021","journal-title":"Transl Pediatr"},{"key":"B117","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.ymgme.2008.02.012","article-title":"Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene","volume":"94","author":"Garrido","year":"2008","journal-title":"Mol Genet Metab"},{"key":"B118","first-page":"89","article-title":"Anesthetic management of a neonate with Antley-Bixler syndrome: a case report","volume":"6","author":"Kwon","year":"2011","journal-title":"Anesth Pain Med"},{"key":"B119","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures","volume":"11","author":"Antley","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"B120","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.prrv.2014.11.003","article-title":"Highly conserved non-coding elements on either side of Sox9 associated with pierre robin sequence","volume":"41","author":"Benko","year":"2009","journal-title":"Nat Genet"},{"key":"B121","doi-asserted-by":"publisher","first-page":"887","DOI":"10.5665\/sleep.5648","article-title":"Orexin plays a role in growth impediment induced by obstructive sleep breathing in rats","volume":"39","author":"Tarasiuk","year":"2016","journal-title":"Sleep"},{"key":"B122","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1002\/humu.22606","article-title":"Identification of novel craniofacial regulatory domains located far upstream of sox 9 and disrupted in pierre robin sequence","volume":"35","author":"Gordon","year":"2014","journal-title":"Hum Mutat"},{"key":"B123","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1177\/0022034520969109","article-title":"Med23 regulates Sox9 expression during craniofacial development","volume":"100","author":"Dash","year":"2021","journal-title":"J Dent Res"},{"key":"B124","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.archoralbio.2016.12.010","article-title":"Rs12941170 at Sox9 gene associated with orofacial clefts in Chinese","volume":"76","author":"Jia","year":"2017","journal-title":"Arch Oral Biol"},{"key":"B125","doi-asserted-by":"publisher","first-page":"4628","DOI":"10.1093\/hmg\/dds305","article-title":"Disruption of a Sox9\u2013\u0392-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type ii","volume":"21","author":"Shung","year":"2012","journal-title":"Hum Mol Genet"},{"key":"B126","doi-asserted-by":"publisher","first-page":"1764","DOI":"10.1093\/hmg\/ddu594","article-title":"Mutant activated Fgfr3 impairs endochondral bone growth by preventing Sox9 downregulation in differentiating chondrocytes","volume":"24","author":"Zhou","year":"2015","journal-title":"Hum Mol Genet"},{"key":"B127","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1016\/j.ajhg.2013.10.023","article-title":"Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears","volume":"93","author":"Gordon","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B128","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41467-021-24852-9","article-title":"Haploinsufficiency of Sf3b2 causes craniofacial microsomia","volume":"12","author":"Timberlake","year":"2021","journal-title":"Nat Commun"},{"key":"B129","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1136\/jmedgenet-2021-108219","article-title":"Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease","volume":"59","author":"Tingaud-Sequeira","year":"2022","journal-title":"J Med Genet"},{"key":"B130","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1016\/j.biocel.2008.10.026","article-title":"Treacher collins syndrome: unmasking the role of Tcof1\/treacle","volume":"41","author":"Sakai","year":"2009","journal-title":"Int J Biochem Cell Biol"},{"key":"B131","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s00438-017-1384-3","article-title":"Mutation screening of Chinese treacher collins syndrome patients identified novel Tcof1 mutations","volume":"293","author":"Chen","year":"2018","journal-title":"Mol Genet Genomics"},{"key":"B132","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.bjoms.2019.11.018","article-title":"Problems in the orofacial region associated with Ehlers-Danlos and marfan syndromes: a case series","volume":"58","author":"Van Camp","year":"2020","journal-title":"Br J Oral Maxillofac Surg"},{"key":"B133","doi-asserted-by":"publisher","first-page":"265","DOI":"10.3390\/genes13020265","article-title":"The Ehlers-Danlos syndromes against the backdrop of inborn errors of metabolism","volume":"13","author":"Van Damme","year":"2022","journal-title":"Genes"},{"key":"B134","article-title":"Preliminary data regarding the influence of the collal Rs2249492 polymorphism on the risk of malocclusion in the Romanian population","volume":"66","author":"Top\u00e2rcean","year":"2021","journal-title":"Studia Universitatis Babes-Bolyai, Biologia"},{"key":"B135","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/sj.ejhg.5200950","article-title":"Collagen Xi sequence variations in nonsyndromic cleft palate, robin sequence and micrognathia","volume":"11","author":"Melkoniemi","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"B136","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the Fbn1 gene favors locus homogeneity of classical marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum Mutat"},{"key":"B137","doi-asserted-by":"publisher","first-page":"700","DOI":"10.7860\/JCDR\/2013\/5656.2885","article-title":"Association between oro-facial defects and systemic alterations in children affected by marfan syndrome","volume":"7","author":"Docimo","year":"2013","journal-title":"J Clin Diagn Res"},{"key":"B138","doi-asserted-by":"publisher","first-page":"2752","DOI":"10.7150\/ijms.60685","article-title":"The molecular genetics of marfan syndrome","volume":"18","author":"Du","year":"2021","journal-title":"Int J Med Sci"},{"key":"B139","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.ceb.2009.01.021","article-title":"Mechanism of Tgf-beta signaling to growth arrest, apoptosis, and epithelial-mesenchymal transition","volume":"21","author":"Heldin","year":"2009","journal-title":"Curr Opin Cell Biol"},{"key":"B140","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1597\/07-095.1","article-title":"Comparison of craniofacial phenotype in craniosynostotic rabbits treated with anti\u2013Tgf-\u03922 at suturectomy site","volume":"45","author":"Frazier","year":"2008","journal-title":"Cleft Palate Craniofac J"},{"key":"B141","doi-asserted-by":"publisher","first-page":"2659","DOI":"10.1242\/dev.124.13.2659","article-title":"Tgfbeta2 knockout mice have multiple developmental defects that are non-overlapping with other Tgfbeta knockout phenotypes","volume":"124","author":"Sanford","year":"1997","journal-title":"Development"},{"key":"B142","doi-asserted-by":"publisher","first-page":"6603","DOI":"10.1093\/hmg\/ddv366","article-title":"Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes Mellitus type 2 in cohen syndrome","volume":"24","author":"Limoge","year":"2015","journal-title":"Hum Mol Genet"},{"key":"B143","doi-asserted-by":"publisher","first-page":"2391","DOI":"10.1093\/hmg\/ddt630","article-title":"Cohen syndrome is associated with major glycosylation defects","volume":"23","author":"Duplomb","year":"2014","journal-title":"Hum Mol Genet"},{"key":"B144","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.yapd.2016.04.005","article-title":"Prader willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy","volume":"63","author":"Irizarry","year":"2016","journal-title":"Adv Pediatr"},{"key":"B145","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/sj.ijo.0801626","article-title":"Systematic screening for mutations in the human necdin gene (Ndn): identification of two naturally occurring polymorphisms and association analysis in body weight regulation","volume":"25","author":"Oeffner","year":"2001","journal-title":"Int J Obes Relat Metab Disord"},{"key":"B146","doi-asserted-by":"publisher","first-page":"113","DOI":"10.4103\/tcmj.tcmj_29_18","article-title":"Is prone sleeping dangerous for neonates? Polysomnographic characteristics and Ndn gene analysis","volume":"31","author":"Wong","year":"2019","journal-title":"Ci Ji Yi Xue Za Zhi"},{"key":"B147","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/2565486","article-title":"Pediatric dental management of an uncommon case of mucopolysaccharidosis type iv a (morquio a syndrome): a case report of a three-year follow-up","volume":"2020","author":"G\u00f3mez-Gonz\u00e1lez","year":"2020","journal-title":"Case Rep Dent"},{"key":"B148","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s00784-017-2100-8","article-title":"Evaluation of oral manifestations of patients with mucopolysaccharidosis iv and vi: clinical and imaging study","volume":"22","author":"de Almeida-Barros","year":"2018","journal-title":"Clin Oral Investig"},{"key":"B149","author":"Yadav","year":""},{"key":"B150","first-page":"139","article-title":"Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant","volume":"8","author":"Guimar\u00e3es","year":"2010","journal-title":"Oral Health Prev Dent"},{"key":"B151","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/s1096-7192(02)00178-6","article-title":"A new gene, Evc2, is mutated in Ellis\u2013Van creveld syndrome","volume":"77","author":"Galdzicka","year":"2002","journal-title":"Mol Genet Metab"},{"key":"B152","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/73508","article-title":"Mutations in a new gene in Ellis-Van creveld syndrome and weyers acrodental dysostosis","volume":"24","author":"Ruiz-Perez","year":"2000","journal-title":"Nat Genet"},{"key":"B153","doi-asserted-by":"publisher","first-page":"1667","DOI":"10.1002\/humu.21117","article-title":"Widening the mutation spectrum of Evc and Evc2: ectopic expression of weyer variants in Nih 3t3 fibroblasts disrupts hedgehog signaling","volume":"30","author":"Valencia","year":"2009","journal-title":"Hum Mutat"},{"key":"B154","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1007\/s11325-013-0833-4","article-title":"Obstructive sleep apnea syndrome (osas) in children with class iii malocclusion: involvement of the Phox2b gene","volume":"17","author":"Lavezzi","year":"2013","journal-title":"Sleep Breath"},{"key":"B155","doi-asserted-by":"publisher","first-page":"1259","DOI":"10.3390\/brainsci11101259","article-title":"The genetics of sleep disorders in children: a narrative review","volume":"11","author":"Mainieri","year":"2021","journal-title":"Brain Sci"},{"key":"B156","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1164\/rccm.201002-0192OC","article-title":"A candidate gene study of obstructive sleep apnea in European Americans and African Americans","volume":"182","author":"Larkin","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"B157","doi-asserted-by":"publisher","first-page":"1689","DOI":"10.5665\/sleep.4082","article-title":"Heritability of craniofacial structures in normal subjects and patients with sleep apnea","volume":"37","author":"Chi","year":"2014","journal-title":"Sleep"},{"key":"B158","doi-asserted-by":"publisher","first-page":"205","DOI":"10.5455\/medarh.2019.73.205-208","article-title":"Heritability of craniofacial characteristics in twins-cephalometric study","volume":"73","author":"Tiro","year":"2019","journal-title":"Med Arch"},{"key":"B159","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1002\/ar.23186","article-title":"Heritability of the human craniofacial Complex","volume":"298","author":"\u0160e\u0161elj","year":"2015","journal-title":"Anat Rec"},{"key":"B160","doi-asserted-by":"publisher","first-page":"174","DOI":"10.7326\/0003-4819-122-3-199502010-00003","article-title":"Family studies in patients with the sleep apnea-hypopnea syndrome","volume":"122","author":"Mathur","year":"1995","journal-title":"Ann Intern Med"},{"key":"B161","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1016\/j.ajhg.2011.12.021","article-title":"Genome-wide association study of three-dimensional facial morphology identifies a variant in Pax3 associated with nasion position","volume":"90","author":"Paternoster","year":"2012","journal-title":"Am J Hum Genet"},{"key":"B162","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1093\/hmg\/ddp543","article-title":"Prdm16 is required for normal palatogenesis in mice","volume":"19","author":"Bjork","year":"2010","journal-title":"Hum Mol Genet"},{"key":"B163","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.bbamcr.2007.03.016","article-title":"Prdm16\/Mel1: a novel smad binding protein expressed in murine embryonic orofacial tissue","volume":"1773","author":"Warner","year":"2007","journal-title":"Biochim Biophys Acta"},{"key":"B164","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J Med Genet"},{"key":"B165","first-page":"382","article-title":"Obstructive sleep apnea: children versus adults","volume-title":"Sleep apnea","author":"Katz","year":"2016"},{"key":"B166","doi-asserted-by":"crossref","first-page":"zsad095","DOI":"10.1093\/sleep\/zsad095","article-title":"A roadmap of craniofacial growth modification for children with sleep disordered breathing: a multidisciplinary proposal","volume":"46","author":"Yoon","year":"2023","journal-title":"Sleep"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1117493\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T15:47:04Z","timestamp":1687880824000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1117493\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,27]]},"references-count":166,"alternative-id":["10.3389\/fped.2023.1117493"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1117493","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,27]]},"article-number":"1117493"}}