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Abnormal morphology of the nasal alae

MedGen UID:
867430
•Concept ID:
C4021804
•
Anatomical Abnormality
Synonym: Abnormality of the nasal alae
 
HPO: HP:0000429

Definition

An abnormality of the Ala of nose. [from HPO]

Professional guidelines

PubMed

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522

Recent clinical studies

Etiology

The Relation Between the Lower Lateral Cartilages and the Function of the External Nasal Valve.
Silva EN
Aesthetic Plast Surg 2019 Feb;43(1):175-183. Epub 2018 Jul 17 doi: 10.1007/s00266-018-1195-x. PMID: 30019240
Primary Overcorrection of the Unilateral Cleft Nasal Deformity: Quantifying the Results.
Lonic D, Morris DE, Lo LJ
Ann Plast Surg 2016 Feb;77 Suppl 1:S25-9. doi: 10.1097/SAP.0000000000000708. PMID: 26808732
MOC-PS(SM) CME article: late cleft lip nasal deformity.
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
Imaging of facial anomalies.
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386

Diagnosis

"Laurin-Sandrow Syndrome - a review of the literature and classification system".
Buzea C, Boulanger N
Clin Dysmorphol 2022 Jul 1;31(3):109-112. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000420. PMID: 35256564
Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M
Am J Med Genet A 2016 Jun;170(6):1495-501. Epub 2016 Mar 17 doi: 10.1002/ajmg.a.37630. PMID: 26989884
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M
Hum Mutat 2014 May;35(5):521-31. Epub 2014 Apr 9 doi: 10.1002/humu.22538. PMID: 24599544
Johanson-Blizzard syndrome.
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article
Imaging of facial anomalies.
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386

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
MOC-PS(SM) CME article: late cleft lip nasal deformity.
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.
Takahashi T, Fujishima M, Tsuchida S, Enoki M, Takada G
J Pediatr Endocrinol Metab 2004 Aug;17(8):1141-4. doi: 10.1515/jpem.2004.17.8.1141. PMID: 15379429
Nasal profile changes after maxillary impaction and advancement surgery.
Mommaerts MY, Lippens F, Abeloos JV, Neyt LF
J Oral Maxillofac Surg 2000 May;58(5):470-5; discussion 475-6. doi: 10.1016/s0278-2391(00)90002-8. PMID: 10800900

Prognosis

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D
Hum Genet 2015 Jan;134(1):97-109. Epub 2014 Oct 19 doi: 10.1007/s00439-014-1498-1. PMID: 25326669
Management of unilateral cleft lip nose deformity, with retracted ala of the noncleft side.
Koh KS, Kim EK
Plast Reconstr Surg 2006 Sep;118(3):723-9. doi: 10.1097/01.prs.0000232995.59635.7c. PMID: 16932184
Nasal profile changes after maxillary impaction and advancement surgery.
Mommaerts MY, Lippens F, Abeloos JV, Neyt LF
J Oral Maxillofac Surg 2000 May;58(5):470-5; discussion 475-6. doi: 10.1016/s0278-2391(00)90002-8. PMID: 10800900
A peculiar malformation of the upper lip: report of six cases.
Tange I
Cleft Palate Craniofac J 1997 Jan;34(1):73-8. doi: 10.1597/1545-1569_1997_034_0073_apmotu_2.3.co_2. PMID: 9003916
A method of bilateral cleft lip nose repair--a preliminary report.
Matsuo K, Hirose T
Ann Acad Med Singap 1988 Jul;17(3):366-71. PMID: 3064701

Clinical prediction guides

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.
Zhang Z, Lu Y, Cao JY, Wang L, Li LK, Wang C, Ye X, Ji YM, Tu LY, Sun Y
Mol Genet Genomic Med 2022 May;10(5):e1933. Epub 2022 Mar 25 doi: 10.1002/mgg3.1933. PMID: 35332702Free PMC Article
Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
Čaplovičová M, Moslerová V, Dupej J, Macek M, Zemková D, Hoffmannová E, Havlovicová M, Velemínská J
Am J Med Genet A 2018 Dec;176(12):2604-2613. Epub 2018 Oct 31 doi: 10.1002/ajmg.a.40659. PMID: 30380201
Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
Savastano CP, Bernardi P, Seuánez HN, Moreira MÂ, Orioli IM
Birth Defects Res A Clin Mol Teratol 2014 Apr;100(4):300-6. Epub 2014 Feb 12 doi: 10.1002/bdra.23216. PMID: 24677696
Johanson-Blizzard syndrome.
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article
Analysis of nasal and labial deformities in cleft lip, alveolus and palate patients by a new rating scale: preliminary report.
Anastassov Y, Chipkov C
J Craniomaxillofac Surg 2003 Oct;31(5):299-303. doi: 10.1016/s1010-5182(03)00054-4. PMID: 14563331

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