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Absent nares

MedGen UID:
892332
Concept ID:
C4020963
Finding
Synonyms: Abouphalia; Aplasia of the nares; Aplasia/Hypoplasia of the nares; Missing nostrils
 
HPO: HP:0100596

Definition

The nostrils (the paired channels of the nose) are not present. [from HPO]

Term Hierarchy

Recent clinical studies

Etiology

Bamat N, Fierro J, Mukerji A, Wright CJ, Millar D, Kirpalani H
Cochrane Database Syst Rev 2021 Nov 30;11(11):CD012778. doi: 10.1002/14651858.CD012778.pub2. PMID: 34847243Free PMC Article
Pacheco RL, Lobo RD, Oliveira MS, Farina EF, Santos CR, Costa SF, Padoveze MC, Garcia CP, Trindade PA, Quitério LM, Rivitti EA, Mamizuka EM, Levin AS
Clinics (Sao Paulo) 2011;66(12):2071-7. doi: 10.1590/s1807-59322011001200012. PMID: 22189732Free PMC Article
van Belkum A, Emonts M, Wertheim H, de Jongh C, Nouwen J, Bartels H, Cole A, Cole A, Hermans P, Boelens H, Toom NL, Snijders S, Verbrugh H, van Leeuwen W
Microbes Infect 2007 Oct;9(12-13):1471-7. Epub 2007 Aug 10 doi: 10.1016/j.micinf.2007.08.003. PMID: 17913546
Cavdar C, Zeybel M, Atay T, Sifil A, Sanlidag C, Gulay Z, Camsari T
Adv Perit Dial 2004;20:62-6. PMID: 15384797
Guntheroth WG, Spiers PS
Pediatr Pulmonol 1996 Dec;22(6):335-41. doi: 10.1002/(SICI)1099-0496(199612)22:6<335::AID-PPUL1>3.0.CO;2-I. PMID: 9016466

Diagnosis

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC
Am J Med Genet A 2016 Oct;170(10):2681-93. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37800. PMID: 27311832
Salinas-Torres VM
Pediatr Dev Pathol 2016 Mar-Apr;19(2):159-64. Epub 2015 Sep 14 doi: 10.2350/15-08-1682-CR.1. PMID: 26367183
Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M
Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20 doi: 10.1016/j.ejmg.2010.11.004. PMID: 21094705
Pyle LC, Fulton JC, Sloane PA, Backer K, Mazur M, Prasain J, Barnes S, Clancy JP, Rowe SM
Am J Respir Cell Mol Biol 2010 Nov;43(5):607-16. Epub 2009 Dec 30 doi: 10.1165/rcmb.2009-0281OC. PMID: 20042712Free PMC Article
Guntheroth WG, Spiers PS
Pediatr Pulmonol 1996 Dec;22(6):335-41. doi: 10.1002/(SICI)1099-0496(199612)22:6<335::AID-PPUL1>3.0.CO;2-I. PMID: 9016466

Therapy

Bamat N, Fierro J, Mukerji A, Wright CJ, Millar D, Kirpalani H
Cochrane Database Syst Rev 2021 Nov 30;11(11):CD012778. doi: 10.1002/14651858.CD012778.pub2. PMID: 34847243Free PMC Article
Cavdar C, Zeybel M, Atay T, Sifil A, Sanlidag C, Gulay Z, Camsari T
Adv Perit Dial 2004;20:62-6. PMID: 15384797

Prognosis

Pacheco RL, Lobo RD, Oliveira MS, Farina EF, Santos CR, Costa SF, Padoveze MC, Garcia CP, Trindade PA, Quitério LM, Rivitti EA, Mamizuka EM, Levin AS
Clinics (Sao Paulo) 2011;66(12):2071-7. doi: 10.1590/s1807-59322011001200012. PMID: 22189732Free PMC Article
James AW, Miranda SG, Culver K, Hall BD, Golabi M
Am J Med Genet A 2007 Dec 1;143A(23):2821-31. doi: 10.1002/ajmg.a.32054. PMID: 17994565
Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A
Prenat Diagn 2002 Aug;22(8):710-4. doi: 10.1002/pd.385. PMID: 12210581

Clinical prediction guides

Bjerre RD, Holm JB, Palleja A, Sølberg J, Skov L, Johansen JD
BMC Microbiol 2021 Sep 23;21(1):256. doi: 10.1186/s12866-021-02302-2. PMID: 34551705Free PMC Article
Cavdar C, Zeybel M, Atay T, Sifil A, Sanlidag C, Gulay Z, Camsari T
Adv Perit Dial 2004;20:62-6. PMID: 15384797

Recent systematic reviews

Bamat N, Fierro J, Mukerji A, Wright CJ, Millar D, Kirpalani H
Cochrane Database Syst Rev 2021 Nov 30;11(11):CD012778. doi: 10.1002/14651858.CD012778.pub2. PMID: 34847243Free PMC Article

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