Research & Literature

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Lee B, Duz MB, Sagong B, et al.

Gene 2016; (576(2 Pt 2)):776-81.

The endoscopic transseptal approach for choanal atresia repair.

Wormald PJ, Zhao YC, Valdes CJ, et al.

International forum of allergy & rhinology 2016; (6(6)):654-60 doi:10.1002/alr.21716.

Endoscopic bilateral congenital choanal atresia repair of 112 cases, evolving concept and technical experience.

Eladl HM, Khafagy YW

International journal of pediatric otorhinolaryngology 2016; (85()):40-5.

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

Wineland A, Menezes MD, Shimony JS, et al.

JAMA otolaryngology-- head & neck surgery 2017; (143(2)):168-177 doi:10.1001/jamaoto.2016.3175.

Anesthesia Management in Patients With Choanal Atresia.

Yildirim ZB, Akdağ M, Çelik F, Baysal E

The Journal of craniofacial surgery 2016; (27(8)):1991-1994 doi:10.1097/SCS.0000000000003086.

Treatment of Congenital Choanal Atresia via Transnasal Endoscopic Method.

Gulşen S, Baysal E, Celenk F, et al.

The Journal of craniofacial surgery 2017; (28(2)):338-342 doi:10.1097/SCS.0000000000003247.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].

Pira-Paredes SM, Montoya-Villada JH, Franco-Restrepo JL, et al.

Revista de neurologia 2017; (64(11)):481-488.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, et al.

European journal of human genetics : EJHG 2017; (25(10)):1126-1133 doi:10.1038/ejhg.2017.107.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):417-430 doi:10.1002/ajmg.c.31591.

Choanal Atresia and Craniosynostosis: Development and Disease.

Lesciotto KM, Heuzé Y, Jabs EW, et al.

Plastic and reconstructive surgery 2018; (141(1)):156-168 doi:10.1097/PRS.0000000000003928.

Prognostic Factors and Management of Patients with Choanal Atresia.

Moreddu E, Rossi ME, Nicollas R, Triglia JM

The Journal of pediatrics 2019; (204()):234-239.e1 doi:10.1016/j.jpeds.2018.08.074.

Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.

Kita M, Kuwata Y, Usui T

Auris, nasus, larynx 2019; (46(5)):808-812 doi:10.1016/j.anl.2018.10.005.

Infant Midnasal Stenosis: Reliability of Nasal Metrics.

Graham ME, Loveridge KM, Pollard SH, et al.

AJNR. American journal of neuroradiology 2019; (40(3)):562-567 doi:10.3174/ajnr.A5980.

[Operative technique and follow-up effect of endoscopic congenital choanal atresia and dilatation].

Deng HY, Gao XQ, Guo YF

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2019; (33(4)):367-370 doi:10.13201/j.issn.1001-1781.2019.04.019.

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care.

Moreddu E, Rizzi M, Adil E, et al.

International journal of pediatric otorhinolaryngology 2019; (123()):151-155 doi:10.1016/j.ijporl.2019.05.010.

Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.

Song X, Wang X, Ding L, et al.

Molecular genetics & genomic medicine 2020; (8(1)):e1034 doi:10.1002/mgg3.1034.

Indirect Decompression Using Lateral Lumbar Interbody Fusion for Restenosis after an Initial Decompression Surgery.

Nakashima H, Kanemura T, Satake K, et al.

Asian spine journal 2020; (14(3)):305-311 doi:10.31616/asj.2019.0194.

Choanal stenosis post radiotherapy for nasopharyngeal carcinoma: about an endoscopic management.

Lakhdar Y, Rochd S, Elbouderkaoui M, et al.

The Pan African medical journal 2019; (34()):111 doi:10.11604/pamj.2019.34.111.18968.

Endoscopic treatment of choanal atresia and use of balloon dilation: our experience.

De Vincentiis GC, Panatta ML, De Corso E, et al.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 2020; (40(1)):44-49 doi:10.14639/0392-100X-1567.

Performance of endoscopic repair with endonasal flaps for congenital choanal atresia. A systematic review.

Bartel R, Levorato M, Adroher M, et al.

Acta otorrinolaringologica espanola 2021; (72(1)):51-56 doi:10.1016/j.otorri.2020.01.002.

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

Lau CL, Chee YY, Chung BHY, Wong MSR

BMJ case reports 2020; (13(7)) doi:10.1136/bcr-2019-233037.

Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome.

Koppen T, Bartmann D, Jakob M, et al.

Journal of neonatal-perinatal medicine 2021; (14(1)):67-74 doi:10.3233/NPM-200450.

Revision cricotracheal resection: our experience.

Ebada HA, El-Fattah AMA, Tawfik A

The Journal of laryngology and otology 2021; (135(1)):57-63 doi:10.1017/S0022215121000062.

Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia.

Šebová I, Vyrvová I, Barkociová J

Medicina (Kaunas, Lithuania) 2021; (57(2)) doi:10.3390/medicina57020093.

Features and Strategies in the Management of Choanal Atresia: A 6-Year Retrospective Analysis.

Kalentakis Z, Stamataki S, Chalkiadakis V, Papapetropoulos N

The Journal of craniofacial surgery 2021; (32(6)):e535-e539 doi:10.1097/SCS.0000000000007490.

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?

Gjerulfsen CE, Møller RS, Fenger CD, et al.

European journal of medical genetics 2021; (64(7)):104246 doi:10.1016/j.ejmg.2021.104246.

CT findings of congenital neonatal pyriform aperture stenosis.

Sidek HAB, Teh YG, Tangaperumal A, et al.

Oxford medical case reports 2021; (2021(5)):omab018 doi:10.1093/omcr/omab018.

[Nasal endoscopic modified mucosal flap technique for repair of congenital choanal atresia in newborns and infants].

Wang PP, Tang LX, Yang XJ, et al.

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2021; (56(7)):713-718 doi:10.3760/cma.j.cn115330-20200812-00668.

A Case Report of Late Diagnosis of Bilateral Choanal Atresia.

ALaryani RA, Alshammari J, Alshiha WS

Cureus 2021; (13(8)):e17530 doi:10.7759/cureus.17530.

Stenting versus stentless repair for bilateral choanal atresia: A systematic review of the literature.

Gundle L, Ojha S, Hendry J, Rosen H

International journal of pediatric otorhinolaryngology 2021; (151()):110926 doi:10.1016/j.ijporl.2021.110926.

Dandy-Walker syndrome with bilateral choanal atresia: A case report.

Alsalamah RK, Alenezi MM, Alsaab F

International journal of surgery case reports 2022; (90()):106702 doi:10.1016/j.ijscr.2021.106702.

Choanal Atresia Repair With Stents and Flaps: A Systematic Review Article.

Alsubaie HM, Almosa WH, Al-Qahtani AS, Margalani O

Allergy & rhinology (Providence, R.I.) 2021; (12()):21526567211058052 doi:10.1177/21526567211058052.

Management of recurrent acquired choanal atresia with radial forearm free flap transfer.

Hirayama H, Ishida K, Kishi K, et al.

Ear, nose, & throat journal 2024; (103(10)):NP610-NP612 doi:10.1177/01455613211070894.

Nasal Obstruction in the Infant.

Frank S, Schoem SR

Pediatric clinics of North America 2022; (69(2)):287-300 doi:10.1016/j.pcl.2021.12.002.

Surgical Management of Choanal Atresia: Two Classic Cases and Review of the Literature.

Rossi NA, Benavidez M, Pine HS, et al.

Cureus 2022; (14(4)):e24259 doi:10.7759/cureus.24259.

[CHARGE syndrome in children with congenital choanal atresia].

Kotova EN, Bogomilsky MR

Vestnik otorinolaringologii 2022; (87(3)):7-12 doi:10.17116/otorino2022870317.

Late Diagnosis of Bilateral Choanal Atresia: A Case Report of a Nine-Year-Old Girl.

Foma W, Bissa H, Adam S, et al.

Cureus 2022; (14(7)):e27203 doi:10.7759/cureus.27203.

Cross-over septal flap technique for choanal atresia surgery in two centres: how I do it.

Elhassan HA, Karligkiotis A, Searyoh K, et al.

The Journal of laryngology and otology 2023; (137(8)):930-933 doi:10.1017/S0022215122001529.

Bilateral Choanal Atresia in an Adolescent Female: A Rare Case Report.

Legesse TK, Gellaw WL, Birhanu W, Zinaye A

International medical case reports journal 2023; (16()):103-107 doi:10.2147/IMCRJ.S403272.

Bilateral choanal atresia diagnosed in a 3-month-old female baby: a case report.

Abraham ZS, Kahinga AA

Annals of medicine and surgery (2012) 2023; (85(4)):1227-1230 doi:10.1097/MS9.0000000000000484.

Successful Noninvasive Respiratory Management of an Infant with Bilateral Choanal Atresia and a Supernumerary Nostril Located on the Columella by a Mouthpiece: A Case Report.

Nakamura N, Kakita H, Takagi M, et al.

The American journal of case reports 2023; (24()):e939642 doi:10.12659/AJCR.939642.

[Clinical Management of Choanal Atresia].

Maas AP, Strieth S, Send T

Laryngo- rhino- otologie 2024; (103(1)):25-34 doi:10.1055/a-2160-2777.

Bilateral Membranous Choanal Atresia Without Associated Other Congenital Anomalies in a 16-Year-Old Female Patient: Case Report.

Dires S, Alemayehu F, Birhanu W

International medical case reports journal 2023; (16()):775-778 doi:10.2147/IMCRJ.S424558.

[Choanal atresia repair in Germany : Resection of dorsal septal parts and stents in focus].

Yılmaz Topçuoğlu MS, Hammitsch-Mayer A, Plinkert PK, Baumann I

HNO 2024; (72(3)):199-203 doi:10.1007/s00106-023-01410-x.

Bilateral congenital choanal atresia in a preterm neonate - a rare neonatal emergency: A case report and review of literature.

Zaidi A, Dey AC, Sabra O, James J

Medical journal, Armed Forces India 2024; (80(1)):115-118 doi:10.1016/j.mjafi.2021.09.011.

Unilateral Choanal Atresia in a Child With Prolonged Nasal Congestion.

Ussher L, David C, Hansen R, et al.

Cureus 2024; (16(4)):e57669 doi:10.7759/cureus.57669.

Glycemic Control and Coronary Stent Failure in Patients With Type 2 Diabetes Mellitus.

Santos-Pardo I, Andersson Franko M, Lagerqvist B, et al.

Journal of the American College of Cardiology 2024; (84(3)):260-272 doi:10.1016/j.jacc.2024.04.012.

Neonatal Nasal Obstruction: A Comprehensive Analysis of Our 20 Years' Experience.

Shivnani D, Kobal S, Kobal M, et al.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2024; (76(3)):2490-2501 doi:10.1007/s12070-024-04537-7.

Congenital bilateral nasal obstruction in neonate: Case report with review of literature for congenital nasal pyriform aperture stenosis (CNPAS) and differential diagnosis and management.

Satpathy A, Dasgupta A, Mohan NVK, Dutta C

National journal of maxillofacial surgery 2024; (15(2)):323-326 doi:10.4103/njms.njms_49_23.

Bilateral Choanal Atresia in 24 Years Old Woman: A Case Report.

Easa SH, Selim AN, Elswaby ES, Elbakry AM

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2024; (76(5)):4784-4787 doi:10.1007/s12070-024-04848-9.

Choanal Atresia in Adult- Endoscopic Surgery and Reconstruction - A Rare Encounter.

Sharma V, Das D, Kumar SH, et al.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2025; (77(4)):1880-1883 doi:10.1007/s12070-025-05394-8.

Neonatal Choanal Atresia and Stenosis.

Robin B, Wambach C, Patel K, et al.

NeoReviews 2025; (26(6)):e380-e390 doi:10.1542/neo.26-6-022.

A recurrence analysis in patients with congenital choanal atresia.

Yılmaz Topçuoğlu MS, Schuler PJ, Westhoff JH, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2025; (53(9)):1571-1576 doi:10.1016/j.jcms.2025.07.003.

Stented and non-stented endoscopic techniques in bilateral choanal atresia repair: A systematic review and meta-analysis.

Chowdhury R, Almutawa D, Almutairi NK, et al.

International journal of pediatric otorhinolaryngology 2025; (196()):112494 doi:10.1016/j.ijporl.2025.112494.

Congenital and Acquired Choanal Atresia: A Comprehensive Case Series on the Diagnosis and Contemporary Management.

Gupta V, Raj P, Gupta DK, et al.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2025; (77(8)):3206-3212 doi:10.1007/s12070-025-05623-0.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Hiruma Y, Orimoto R, Sato L, et al.

Cureus 2025; (17(7)):e88327 doi:10.7759/cureus.88327.

Newborn nasal obstruction: Rare anatomical causes to consider.

Asensi-Diaz M, Lowy Benoliel A, Pasamontes Pingarron JA, et al.

Acta otorrinolaringologica espanola 2025; (76(6)):512279 doi:10.1016/j.otoeng.2025.512279.

Late-diagnosed bilateral congenital choanal atresia in adulthood: a case report.

Abboud F, Haddad S, Ibrahim G, et al.

Journal of surgical case reports 2026; (2026(2)):rjag090 doi:10.1093/jscr/rjag090.

Association of Piriform Aperture Dimensions, Nasal Floor Asymmetry and Nasal Length With VAS and NOSE Score in Patients Planned for Septo(rhino)Plasty.

Giotakis AI, Koulentis I, Giotakis E

The Journal of craniofacial surgery 2026; doi:10.1097/SCS.0000000000012550.