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Membranous choanal atresia

MedGen UID:
868769
•Concept ID:
C4023174
•
Pathologic Function
HPO: HP:0011820

Definition

Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMembranous choanal atresia

Professional guidelines

PubMed

Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia.
Šebová I, Vyrvová I, Barkociová J
Medicina (Kaunas) 2021 Jan 21;57(2) doi: 10.3390/medicina57020093. PMID: 33494264Free PMC Article
Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective analysis.
Saraniti C, Santangelo M, Salvago P
Braz J Otorhinolaryngol 2017 Mar-Apr;83(2):183-189. Epub 2016 Apr 22 doi: 10.1016/j.bjorl.2016.03.009. PMID: 27174773Free PMC Article
Choanal atresia: a new anatomic classification and clinical management applications.
Brown OE, Pownell P, Manning SC
Laryngoscope 1996 Jan;106(1 Pt 1):97-101. doi: 10.1097/00005537-199601000-00019. PMID: 8544637

Recent clinical studies

Etiology

Choanal atresia: precise CT evaluation.
Slovis TL, Renfro B, Watts FB, Kuhns LR, Belenky W, Spoylar J
Radiology 1985 May;155(2):345-8. doi: 10.1148/radiology.155.2.3983384. PMID: 3983384

Diagnosis

Balloon dilation and transient stenting of unilateral membranous choanal atresia in a British Shorthair cat with chronic purulent rhinitis and ascending meningoencephalitis.
Pestelacci S, Hofer-Inteeworn N, Dennler M, Glaus T
Schweiz Arch Tierheilkd 2023 Dec;165(12):793-800. doi: 10.17236/sat00414. PMID: 38014545
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, Asai S, Asai T, Mori M, Takeshita S, Ueda H, Aoyama M, Kishimoto M, Ito K, Yamada Y
Am J Case Rep 2023 Jun 26;24:e939642. doi: 10.12659/AJCR.939642. PMID: 37357428Free PMC Article
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A
Eur J Med Genet 2022 Dec;65(12):104638. Epub 2022 Oct 8 doi: 10.1016/j.ejmg.2022.104638. PMID: 36216272
22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).
Nur BG, Cetin Z, Clark OA, Mihci E, Oygur N, Karauzum SB
Genet Couns 2015;26(1):67-75. PMID: 26043510
Choanal atresia: precise CT evaluation.
Slovis TL, Renfro B, Watts FB, Kuhns LR, Belenky W, Spoylar J
Radiology 1985 May;155(2):345-8. doi: 10.1148/radiology.155.2.3983384. PMID: 3983384

Prognosis

Choanal atresia: precise CT evaluation.
Slovis TL, Renfro B, Watts FB, Kuhns LR, Belenky W, Spoylar J
Radiology 1985 May;155(2):345-8. doi: 10.1148/radiology.155.2.3983384. PMID: 3983384

Clinical prediction guides

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, Asai S, Asai T, Mori M, Takeshita S, Ueda H, Aoyama M, Kishimoto M, Ito K, Yamada Y
Am J Case Rep 2023 Jun 26;24:e939642. doi: 10.12659/AJCR.939642. PMID: 37357428Free PMC Article
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A
Eur J Med Genet 2022 Dec;65(12):104638. Epub 2022 Oct 8 doi: 10.1016/j.ejmg.2022.104638. PMID: 36216272
De novo partial trisomy distal 4q: a case report.
Gorukmez O, Sag SO, Gorukmez O, Ture M, Gulten T, Yakut T
Genet Couns 2014;25(4):423-8. PMID: 25804022

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