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Abnormal columella morphology

MedGen UID:
869730
•Concept ID:
C4024158
•
Anatomical Abnormality
Synonym: Abnormality of the columella
 
HPO: HP:0009929

Definition

A structural abnormality of the columella. [from HPO]

Professional guidelines

PubMed

Assessment of Treatment Outcome of Presurgical Nasoalveolar Molding in Patients With Cleft Lip and Palate and Its Postsurgical Stability.
Bhutiani N, Tripathi T, Verma M, Bhandari PS, Rai P
Cleft Palate Craniofac J 2020 Jun;57(6):700-706. Epub 2020 Mar 1 doi: 10.1177/1055665620906293. PMID: 32116001
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Clinical features and management issues in Mowat-Wilson syndrome.
Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L
Am J Med Genet A 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530. PMID: 17103451

Recent clinical studies

Etiology

Combined correction of the nasal tip and upper lip in bilateral cleft lip patients: A novel approach.
Ujam AB, Vig N, Nasser N
Int J Pediatr Otorhinolaryngol 2019 Nov;126:109593. Epub 2019 Jul 17 doi: 10.1016/j.ijporl.2019.109593. PMID: 31473479
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.
Ullah A, Kalsoom UE, Umair M, John P, Ansar M, Basit S, Ahmad W
Clin Genet 2017 Mar;91(3):494-498. Epub 2016 Jul 12 doi: 10.1111/cge.12822. PMID: 27324866
Accessory Nostril: A Rare Congenital Nasal Anomaly.
Gulasi S, Turhan AH, Celik Y, Atici A, Vayisoglu Y, Ünal M
J Craniofac Surg 2015 Oct;26(7):e602-3. doi: 10.1097/SCS.0000000000002048. PMID: 26468836
Supernumerary nostrils.
Chen MT, Yeong EK
Br J Plast Surg 1992 Oct;45(7):557-8. doi: 10.1016/0007-1226(92)90156-r. PMID: 1446204

Diagnosis

Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.
Bas A, Sarac F, Derelioglu S
J Clin Pediatr Dent 2023 May;47(3):103-108. Epub 2023 May 3 doi: 10.22514/jocpd.2023.028. PMID: 37143428
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Accessory Nostril: A Rare Congenital Nasal Anomaly.
Gulasi S, Turhan AH, Celik Y, Atici A, Vayisoglu Y, Ünal M
J Craniofac Surg 2015 Oct;26(7):e602-3. doi: 10.1097/SCS.0000000000002048. PMID: 26468836
Further delineation of the Kapur-Toriello syndrome.
Robin NH, Rutledge KD, Ray PD, Grant JH
Am J Med Genet A 2010 Apr;152A(4):1013-5. doi: 10.1002/ajmg.a.33349. PMID: 20358618
Inspiratory nasal obstruction.
Stoksted P, Kjellerup P, Denmark O
Rhinology 1977 Mar;15(1):3-16. PMID: 918510

Therapy

Quantification of maxillary dental midline deviation in 2D photographs: Methodology trial.
Alarabi AM, Revie GF, Bearn DR
Int Orthod 2019 Jun;17(2):312-323. Epub 2019 Apr 22 doi: 10.1016/j.ortho.2019.03.014. PMID: 31023588
Correction of Short Nose.
Jung DH, Jin SG, Hyun SM
Facial Plast Surg Clin North Am 2018 Aug;26(3):377-388. Epub 2018 Jun 7 doi: 10.1016/j.fsc.2018.03.011. PMID: 30005793
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.
Ullah A, Umair M, E-Kalsoom U, Shahzad S, Basit S, Ahmad W
J Hum Genet 2018 Jan;63(1):97-100. Epub 2017 Nov 16 doi: 10.1038/s10038-017-0358-y. PMID: 29215096
A comparison of results using nasoalveolar moulding in cleft infants treated within 1 month of life versus those treated after this period: development of a new protocol.
Shetty V, Vyas HJ, Sharma SM, Sailer HF
Int J Oral Maxillofac Surg 2012 Jan;41(1):28-36. Epub 2011 Oct 21 doi: 10.1016/j.ijom.2011.09.002. PMID: 22018821
Septal deviation in newborn infants.
Alpini D, Corti A, Brusa E, Bini A
Int J Pediatr Otorhinolaryngol 1986 Apr;11(2):103-7. doi: 10.1016/s0165-5876(86)80004-0. PMID: 3744693

Prognosis

Accessory Nostril: A Rare Congenital Nasal Anomaly.
Gulasi S, Turhan AH, Celik Y, Atici A, Vayisoglu Y, Ünal M
J Craniofac Surg 2015 Oct;26(7):e602-3. doi: 10.1097/SCS.0000000000002048. PMID: 26468836
A comparison of results using nasoalveolar moulding in cleft infants treated within 1 month of life versus those treated after this period: development of a new protocol.
Shetty V, Vyas HJ, Sharma SM, Sailer HF
Int J Oral Maxillofac Surg 2012 Jan;41(1):28-36. Epub 2011 Oct 21 doi: 10.1016/j.ijom.2011.09.002. PMID: 22018821
Caudal nasal deviation.
Guyuron B, Behmand RA
Plast Reconstr Surg 2003 Jun;111(7):2449-57; discussion 2458-9. doi: 10.1097/01.PRS.0000060802.70218.FE. PMID: 12794495
Supernumerary nostrils.
Chen MT, Yeong EK
Br J Plast Surg 1992 Oct;45(7):557-8. doi: 10.1016/0007-1226(92)90156-r. PMID: 1446204
A modified technique to correct the cleft lip nasal deformity.
Ozcan G
J Craniomaxillofac Surg 1989 Dec;17 Suppl 1:14-6. doi: 10.1016/s1010-5182(89)80031-9. PMID: 2606981

Clinical prediction guides

Accessory Nostril: A Rare Congenital Nasal Anomaly.
Gulasi S, Turhan AH, Celik Y, Atici A, Vayisoglu Y, Ünal M
J Craniofac Surg 2015 Oct;26(7):e602-3. doi: 10.1097/SCS.0000000000002048. PMID: 26468836
Key features of the human middle ear.
Hudde H, Weistenhofer C
ORL J Otorhinolaryngol Relat Spec 2006;68(6):324-8. Epub 2006 Oct 26 doi: 10.1159/000095274. PMID: 17065824
Caudal nasal deviation.
Guyuron B, Behmand RA
Plast Reconstr Surg 2003 Jun;111(7):2449-57; discussion 2458-9. doi: 10.1097/01.PRS.0000060802.70218.FE. PMID: 12794495
Ocular plagiocephaly: ocular torticollis with skull and facial asymmetry.
Greenberg MF, Pollard ZF
Ophthalmology 2000 Jan;107(1):173-8; discussion 178-9. doi: 10.1016/s0161-6420(99)00004-4. PMID: 10647738
Supernumerary nostrils.
Chen MT, Yeong EK
Br J Plast Surg 1992 Oct;45(7):557-8. doi: 10.1016/0007-1226(92)90156-r. PMID: 1446204

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