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Abnormal nasal tip morphology

MedGen UID:
871358
Concept ID:
C4025852
Anatomical Abnormality
Synonym: Abnormality of the nasal tip
 
HPO: HP:0000436

Definition

An abnormality of the nasal tip. [from HPO]

Professional guidelines

PubMed

Yan Y, Huang S, Huang L, Zhang J, Li S, Zhang C, Luo X
Horm Res Paediatr 2024;97(1):28-39. Epub 2023 Mar 29 doi: 10.1159/000530414. PMID: 36990068
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
Lloyd MS, Rodrigues D, Nishikawa H, White N, Solanki G, Noons P, Evans M, Dover S
J Craniofac Surg 2016 Jun;27(4):871-3. doi: 10.1097/SCS.0000000000002559. PMID: 27152571

Recent clinical studies

Etiology

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
Gassner HG, Schwan F, Haubner F, Suárez GA, Vielsmeier V
Facial Plast Surg 2016 Apr;32(2):213-8. Epub 2016 Apr 20 doi: 10.1055/s-0036-1578567. PMID: 27097143
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article
Adam MP, Hudgins L
Clin Genet 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x. PMID: 15691356
de la Fuente A, Martin del Yerro JL
Aesthetic Plast Surg 1994 Fall;18(4):357-61. doi: 10.1007/BF00451340. PMID: 7817883

Diagnosis

Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF
Hum Mutat 2022 Jul;43(7):900-918. Epub 2022 May 10 doi: 10.1002/humu.24375. PMID: 35344616Free PMC Article
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
Koenig R, Meinecke P, Kuechler A, Schäfer D, Müller D
Am J Med Genet A 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587. PMID: 20803650
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. doi: 10.4103/0378-6323.16624. PMID: 16394441
Adam MP, Hudgins L
Clin Genet 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x. PMID: 15691356

Therapy

Şibar S, Erdal AI, Doruk M, Gündüz N, Özçiler MF
Ann Plast Surg 2024 Nov 1;93(5):551-557. Epub 2024 Jul 8 doi: 10.1097/SAP.0000000000004049. PMID: 38980933
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
Stephan S, Wang TD
Facial Plast Surg 2012 Apr;28(2):177-86. Epub 2012 May 6 doi: 10.1055/s-0032-1309297. PMID: 22562567
Nolst Trenité GJ
Facial Plast Surg 2002 Aug;18(3):179-86. doi: 10.1055/s-2002-33064. PMID: 12152136
de la Fuente A, Martin del Yerro JL
Aesthetic Plast Surg 1994 Fall;18(4):357-61. doi: 10.1007/BF00451340. PMID: 7817883

Prognosis

Uehara T, Ishige T, Hattori S, Yoshihashi H, Funato M, Yamaguchi Y, Takenouchi T, Kosaki K
Am J Med Genet A 2018 Jun;176(6):1335-1340. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38703. PMID: 29663678
Yigit B, Bicer A, Aytop D
J Craniofac Surg 2015 Jan;26(1):e1-2. doi: 10.1097/SCS.0000000000001173. PMID: 25569406
Barrios ZMV
Plast Reconstr Surg 2008 Aug;122(2):74e-76e. doi: 10.1097/PRS.0b013e31817d5ec0. PMID: 18626325
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. doi: 10.4103/0378-6323.16624. PMID: 16394441
de la Fuente A, Martin del Yerro JL
Aesthetic Plast Surg 1994 Fall;18(4):357-61. doi: 10.1007/BF00451340. PMID: 7817883

Clinical prediction guides

Şibar S, Erdal AI, Doruk M, Gündüz N, Özçiler MF
Ann Plast Surg 2024 Nov 1;93(5):551-557. Epub 2024 Jul 8 doi: 10.1097/SAP.0000000000004049. PMID: 38980933
McGrath M, Bell E, Locketz GD, Becker DG
Curr Opin Otolaryngol Head Neck Surg 2019 Feb;27(1):1-6. doi: 10.1097/MOO.0000000000000509. PMID: 30507685
Uehara T, Ishige T, Hattori S, Yoshihashi H, Funato M, Yamaguchi Y, Takenouchi T, Kosaki K
Am J Med Genet A 2018 Jun;176(6):1335-1340. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38703. PMID: 29663678
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article
Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
Am J Med Genet 1987 Aug;27(4):943-51. doi: 10.1002/ajmg.1320270422. PMID: 3321995

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