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Abnormal shape of the palpebral fissure

MedGen UID:
867522
Concept ID:
C4021905
Anatomical Abnormality
Synonyms: Abnormal morphology of the palpebral fissure; Abnormal shape of the opening between the eyelids
 
HPO: HP:0200005

Definition

The presence of an abnormal shape of the palpebral fissure. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article

Recent clinical studies

Etiology

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Lessa S, Sebastiá R, Pontello J
Ophthalmic Plast Reconstr Surg 2019 Sep/Oct;35(5):491-494. doi: 10.1097/IOP.0000000000001353. PMID: 30865066
Zhang S, Xue HY
Aesthetic Plast Surg 2018 Dec;42(6):1571-1575. Epub 2018 Sep 14 doi: 10.1007/s00266-018-1193-z. PMID: 30218152
Spazzapan P, Arnaud E, Baujat G, Nizon M, Malan V, Brunelle F, Di Rocco F
Childs Nerv Syst 2016 Feb;32(2):327-35. Epub 2015 Nov 23 doi: 10.1007/s00381-015-2957-2. PMID: 26597681
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195

Diagnosis

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC
Am J Med Genet A 2018 Apr;176(4):862-876. Epub 2018 Feb 20 doi: 10.1002/ajmg.a.38626. PMID: 29460469
Spazzapan P, Arnaud E, Baujat G, Nizon M, Malan V, Brunelle F, Di Rocco F
Childs Nerv Syst 2016 Feb;32(2):327-35. Epub 2015 Nov 23 doi: 10.1007/s00381-015-2957-2. PMID: 26597681
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article
Kieser J, Townsend G, Quick A
N Z Dent J 2003 Mar;99(1):5-9. PMID: 15330383

Therapy

Abdelmegeed AG, Haredy MM, Mazeed AS, Hifny MA
J Craniofac Surg 2022 Oct 1;33(7):e673-e676. Epub 2022 Feb 4 doi: 10.1097/SCS.0000000000008531. PMID: 35119403
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
de Souza MA, McAllister C, Suttie M, Perrotta C, Mattina T, Faravelli F, Forzano F, Holland A, Hammond P
Am J Med Genet A 2013 Oct;161A(10):2453-63. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36100. PMID: 23918156
Lipinski RJ, Hammond P, O'Leary-Moore SK, Ament JJ, Pecevich SJ, Jiang Y, Budin F, Parnell SE, Suttie M, Godin EA, Everson JL, Dehart DB, Oguz I, Holloway HT, Styner MA, Johnson GA, Sulik KK
PLoS One 2012;7(8):e43067. Epub 2012 Aug 22 doi: 10.1371/journal.pone.0043067. PMID: 22937012Free PMC Article
Nolan ME
Pediatr Nurs 2003 Nov-Dec;29(6):427-30, 451. PMID: 14743837

Prognosis

Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
Zhai Z, Jin X, Yu L, Yang X, Qi Z
Ann Plast Surg 2019 Apr;82(4):403-406. doi: 10.1097/SAP.0000000000001817. PMID: 30855368
Zhang S, Xue HY
Aesthetic Plast Surg 2018 Dec;42(6):1571-1575. Epub 2018 Sep 14 doi: 10.1007/s00266-018-1193-z. PMID: 30218152
Suttie M, Foroud T, Wetherill L, Jacobson JL, Molteno CD, Meintjes EM, Hoyme HE, Khaole N, Robinson LK, Riley EP, Jacobson SW, Hammond P
Pediatrics 2013 Mar;131(3):e779-88. Epub 2013 Feb 25 doi: 10.1542/peds.2012-1371. PMID: 23439907Free PMC Article
Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D
Am J Med Genet A 2011 Mar;155A(3):638-41. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33839. PMID: 21344634

Clinical prediction guides

Abdelmegeed AG, Haredy MM, Mazeed AS, Hifny MA
J Craniofac Surg 2022 Oct 1;33(7):e673-e676. Epub 2022 Feb 4 doi: 10.1097/SCS.0000000000008531. PMID: 35119403
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349
Nalbantoğlu B, Donma MM, Nişli K, Paketçi C, Karasu E, Ozdilek B, Mintaş NE
Turk J Pediatr 2013 Mar-Apr;55(2):203-6. PMID: 24192682
Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M
Am J Med Genet 1998 Feb 26;76(1):93-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>3.0.co;2-k. PMID: 9508073

Recent systematic reviews

Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760

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