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Choanal atresia, unilateral

MedGen UID:
1843076
Concept ID:
C5680630
Congenital Abnormality
Synonym: choanal atresia, unilateral
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015312
Orphanet: ORPHA137917

Definition

Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChoanal atresia, unilateral

Professional guidelines

PubMed

De Vincentiis GC, Panatta ML, De Corso E, Marini G, Bianchi A, Giuliani M, Sitzia E, Tucci FM
Acta Otorhinolaryngol Ital 2020 Feb;40(1):44-49. doi: 10.14639/0392-100X-1567. PMID: 32275648Free PMC Article
Moreddu E, Rizzi M, Adil E, Balakrishnan K, Chan K, Cheng A, Daniel SJ, de Alarcon A, Hart C, Hartnick C, Inglis A, Leboulanger N, Pransky S, Rahbar R, Russell J, Rutter M, Sidell D, Smith RJH, Soma M, Spratley J, Thompson D, Trozzi M, Ward R, Wyatt M, Yeung J, Zalzal G, Zur K, Nicollas R
Int J Pediatr Otorhinolaryngol 2019 Aug;123:151-155. Epub 2019 May 13 doi: 10.1016/j.ijporl.2019.05.010. PMID: 31103745
Moreddu E, Rossi ME, Nicollas R, Triglia JM
J Pediatr 2019 Jan;204:234-239.e1. Epub 2018 Oct 2 doi: 10.1016/j.jpeds.2018.08.074. PMID: 30291020

Recent clinical studies

Etiology

Benjamin RH, Marengo LK, Scheuerle AE, Agopian AJ, Mitchell LE
Am J Med Genet A 2024 Jun;194(6):e63549. Epub 2024 Feb 5 doi: 10.1002/ajmg.a.63549. PMID: 38314656Free PMC Article
Oh MS, Kadom N, Abramowicz S, Todd NW Jr
Am J Otolaryngol 2021 Jan-Feb;42(1):102824. Epub 2020 Nov 12 doi: 10.1016/j.amjoto.2020.102824. PMID: 33221635
Moreddu E, Rossi ME, Nicollas R, Triglia JM
J Pediatr 2019 Jan;204:234-239.e1. Epub 2018 Oct 2 doi: 10.1016/j.jpeds.2018.08.074. PMID: 30291020
Cedin AC, Atallah AN, Andriolo RB, Cruz OL, Pignatari SN
Cochrane Database Syst Rev 2012 Feb 15;(2):CD008993. doi: 10.1002/14651858.CD008993.pub2. PMID: 22336856
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Diagnosis

Šebová I, Vyrvová I, Barkociová J
Medicina (Kaunas) 2021 Jan 21;57(2) doi: 10.3390/medicina57020093. PMID: 33494264Free PMC Article
Koppen T, Bartmann D, Jakob M, Bootz F, Müller A, Dresbach T, Send T
J Neonatal Perinatal Med 2021;14(1):67-74. doi: 10.3233/NPM-200450. PMID: 32741782
Moreddu E, Rizzi M, Adil E, Balakrishnan K, Chan K, Cheng A, Daniel SJ, de Alarcon A, Hart C, Hartnick C, Inglis A, Leboulanger N, Pransky S, Rahbar R, Russell J, Rutter M, Sidell D, Smith RJH, Soma M, Spratley J, Thompson D, Trozzi M, Ward R, Wyatt M, Yeung J, Zalzal G, Zur K, Nicollas R
Int J Pediatr Otorhinolaryngol 2019 Aug;123:151-155. Epub 2019 May 13 doi: 10.1016/j.ijporl.2019.05.010. PMID: 31103745
Moreddu E, Rossi ME, Nicollas R, Triglia JM
J Pediatr 2019 Jan;204:234-239.e1. Epub 2018 Oct 2 doi: 10.1016/j.jpeds.2018.08.074. PMID: 30291020
Nemechek AJ, Amedee RG
J La State Med Soc 1994 Aug;146(8):337-40. PMID: 7930863

Therapy

Moreddu E, Rossi ME, Nicollas R, Triglia JM
J Pediatr 2019 Jan;204:234-239.e1. Epub 2018 Oct 2 doi: 10.1016/j.jpeds.2018.08.074. PMID: 30291020
Brihaye P, Delpierre I, De Villé A, Johansson AB, Biarent D, Mansbach AL
Int J Pediatr Otorhinolaryngol 2017 Jul;98:9-18. Epub 2017 Apr 17 doi: 10.1016/j.ijporl.2017.04.022. PMID: 28583512
Cedin AC, Atallah AN, Andriolo RB, Cruz OL, Pignatari SN
Cochrane Database Syst Rev 2012 Feb 15;(2):CD008993. doi: 10.1002/14651858.CD008993.pub2. PMID: 22336856
Hengerer AS, Brickman TM, Jeyakumar A
Laryngoscope 2008 May;118(5):862-6. doi: 10.1097/MLG.0b013e3181639b91. PMID: 18197129
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Prognosis

De Vincentiis GC, Panatta ML, De Corso E, Marini G, Bianchi A, Giuliani M, Sitzia E, Tucci FM
Acta Otorhinolaryngol Ital 2020 Feb;40(1):44-49. doi: 10.14639/0392-100X-1567. PMID: 32275648Free PMC Article
Moreddu E, Rossi ME, Nicollas R, Triglia JM
J Pediatr 2019 Jan;204:234-239.e1. Epub 2018 Oct 2 doi: 10.1016/j.jpeds.2018.08.074. PMID: 30291020
Brihaye P, Delpierre I, De Villé A, Johansson AB, Biarent D, Mansbach AL
Int J Pediatr Otorhinolaryngol 2017 Jul;98:9-18. Epub 2017 Apr 17 doi: 10.1016/j.ijporl.2017.04.022. PMID: 28583512
Hengerer AS, Brickman TM, Jeyakumar A
Laryngoscope 2008 May;118(5):862-6. doi: 10.1097/MLG.0b013e3181639b91. PMID: 18197129
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW
Eur J Pediatr 2002 Feb;161(2):78-80. doi: 10.1007/s00431-001-0870-z. PMID: 11954755

Clinical prediction guides

Ferlito S, Maniaci A, Dragonetti AG, Cocuzza S, Lechien JR, Calvo-Henríquez C, Maza-Solano J, Locatello LG, Caruso S, Nocera F, Achena A, Mevio N, Mantini G, Ormellese G, Placentino A, La Mantia I
Int J Environ Res Public Health 2022 Jul 26;19(15) doi: 10.3390/ijerph19159084. PMID: 35897454Free PMC Article
Kalentakis Z, Stamataki S, Chalkiadakis V, Papapetropoulos N
J Craniofac Surg 2021 Sep 1;32(6):e535-e539. doi: 10.1097/SCS.0000000000007490. PMID: 33770044
Oh MS, Kadom N, Abramowicz S, Todd NW Jr
Am J Otolaryngol 2021 Jan-Feb;42(1):102824. Epub 2020 Nov 12 doi: 10.1016/j.amjoto.2020.102824. PMID: 33221635
Yildirim ZB, Akdağ M, Çelik F, Baysal E
J Craniofac Surg 2016 Nov;27(8):1991-1994. doi: 10.1097/SCS.0000000000003086. PMID: 28005740
de Blécourt RA, Roddi R, Berg JP, Bloem JJ
Ann Plast Surg 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. PMID: 8988777

Recent systematic reviews

Murray S, Luo L, Quimby A, Barrowman N, Vaccani JP, Caulley L
Int J Pediatr Otorhinolaryngol 2019 Apr;119:47-53. Epub 2019 Jan 4 doi: 10.1016/j.ijporl.2019.01.001. PMID: 30665176
Cedin AC, Atallah AN, Andriolo RB, Cruz OL, Pignatari SN
Cochrane Database Syst Rev 2012 Feb 15;(2):CD008993. doi: 10.1002/14651858.CD008993.pub2. PMID: 22336856

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