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Abnormality of upper lip vermillion

MedGen UID:
868991
Concept ID:
C4023406
Anatomical Abnormality
Synonyms: Abnormality of the red part of the upper lip; Anomaly of the upper lip vermillion; Deformity of the upper lip vermillion; Malformation of the upper lip vermillion
 
HPO: HP:0011339

Definition

An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. [from HPO]

Recent clinical studies

Etiology

Zheng D, Zhou J, Yu L, Zhang Y, Wang J
J Craniofac Surg 2020 Mar/Apr;31(2):343-346. doi: 10.1097/SCS.0000000000006071. PMID: 31856127
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
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID
Am J Med Genet A 2019 Feb;179(2):150-158. Epub 2019 Jan 6 doi: 10.1002/ajmg.a.61033. PMID: 30614194Free PMC Article
Al-Rudainy D, Ju X, Mehendale FV, Ayoub A
Cleft Palate Craniofac J 2019 Apr;56(4):495-501. Epub 2018 Jun 5 doi: 10.1177/1055665618780108. PMID: 29870280
Falk-Delgado A, Lång A, Hakelius M, Skoog V, Nowinski D
Plast Reconstr Surg 2018 May;141(5):1226-1233. doi: 10.1097/PRS.0000000000004321. PMID: 29697619

Diagnosis

Ozdede M, Dere KA
J Craniofac Surg 2020 Sep;31(6):e563-e565. doi: 10.1097/SCS.0000000000006528. PMID: 32472894
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID
Am J Med Genet A 2019 Feb;179(2):150-158. Epub 2019 Jan 6 doi: 10.1002/ajmg.a.61033. PMID: 30614194Free PMC Article
De Castro DK, Ng ZY, Holzer PW, Waner M, Cetrulo CL Jr, Fay A
J Oral Maxillofac Surg 2017 Nov;75(11):2449-2455. Epub 2017 Mar 22 doi: 10.1016/j.joms.2017.03.020. PMID: 28412265
Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D
Am J Med Genet A 2011 Aug;155A(8):1857-64. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34072. PMID: 21739578
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592

Therapy

Peterson DJ, Azad AD, Gkorila A, Patel AA, Boudreault MS, Nazerali RS
Ann Plast Surg 2020 May;84(5S Suppl 4):S268-S272. doi: 10.1097/SAP.0000000000002387. PMID: 32294074
Falk-Delgado A, Lång A, Hakelius M, Skoog V, Nowinski D
Plast Reconstr Surg 2018 May;141(5):1226-1233. doi: 10.1097/PRS.0000000000004321. PMID: 29697619
Othman SA, Aidil Koay NA
Sci Rep 2016 Aug 10;6:31335. doi: 10.1038/srep31335. PMID: 27507713Free PMC Article
Feldman HS, Jones KL, Lindsay S, Slymen D, Klonoff-Cohen H, Kao K, Rao S, Chambers C
Am J Med Genet A 2011 Dec;155A(12):2949-55. Epub 2011 Oct 14 doi: 10.1002/ajmg.a.34276. PMID: 22002918
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

Prognosis

Jackson OA, Lee A, Nikovina E, Kaye AE
Cleft Palate Craniofac J 2020 Jan;57(1):127-131. Epub 2019 Jul 21 doi: 10.1177/1055665619864221. PMID: 31327233
Falk-Delgado A, Lång A, Hakelius M, Skoog V, Nowinski D
Plast Reconstr Surg 2018 May;141(5):1226-1233. doi: 10.1097/PRS.0000000000004321. PMID: 29697619
Kluba S, Bopp C, Bacher M, Reinert S, Krimmel M
J Craniomaxillofac Surg 2015 Jun;43(5):599-605. Epub 2015 Mar 9 doi: 10.1016/j.jcms.2015.02.019. PMID: 25843646
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

Clinical prediction guides

Wang Z, Yu B, Chen X, Li Q, Dai C, Wei J
J Craniofac Surg 2023 Jul-Aug 01;34(5):1435-1438. Epub 2023 May 5 doi: 10.1097/SCS.0000000000009339. PMID: 37143197
Namburi RKR, Gopalkrishna P, Chakravarthy KP, Rajendran P, Singh D
Stomatologija 2022;24(2):43-48. PMID: 37140237
Mak BC, Sanchez Russo R, Gambello MJ, Fleischer N, Black ED, Leslie E, Murphy MM; Emory 3q29 Project, Mulle JG
Am J Med Genet A 2021 Jul;185(7):2094-2101. Epub 2021 May 3 doi: 10.1002/ajmg.a.62227. PMID: 33938623Free PMC Article
Jackson OA, Lee A, Nikovina E, Kaye AE
Cleft Palate Craniofac J 2020 Jan;57(1):127-131. Epub 2019 Jul 21 doi: 10.1177/1055665619864221. PMID: 31327233
Scheller K, Bolz J, Scheller C, Haase R
J Craniomaxillofac Surg 2019 Oct;47(10):1557-1562. Epub 2019 Jul 19 doi: 10.1016/j.jcms.2019.07.010. PMID: 31402208

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