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Abnormality of the philtrum

MedGen UID:
384043
Concept ID:
C1857045
Anatomical Abnormality; Finding
Synonyms: Abnormal philtrum; Abnormality of the paralabial region
 
HPO: HP:0000288

Definition

An abnormality of the philtrum. [from HPO]

Term Hierarchy

Conditions with this feature

Rosselli-gulienetti syndrome
MedGen UID:
163221
Concept ID:
C0796139
Disease or Syndrome
A syndrome of anhidrosis-hypotrichosis, pili torti, microdontia, nail dysplasia, cleft lip/palate, urogenital abnormalities, and mental retardation.
Cleft lip/palate-ectodermal dysplasia syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.

Recent clinical studies

Etiology

Răducanu AM, Didilescu AC, Feraru IV, Dumitrache MA, Hănţoiu TA, Ionescu E
Rom J Morphol Embryol 2015;56(2):453-7. PMID: 26193213
Kalaskar R, Kalaskar A, Naqvi FS, Tawani GS, Walke DR
Pediatr Dent 2013 May-Jun;35(3):279-83. PMID: 23756316
de Milly MN, Alison M, Arthurs O, Vuillard E, Oury JF, Elmaleh-Berges M, Sebag G, Belarbi N
Prenat Diagn 2013 Mar;33(3):273-8. Epub 2013 Jan 25 doi: 10.1002/pd.4058. PMID: 23355017
Agarwal R, Chandra R
J Craniofac Surg 2012 Sep;23(5):1349-54. doi: 10.1097/SCS.0b013e31826467e5. PMID: 22948620
Mzezewa S, Muchemwa FC
Trop Doct 2010 Jul;40(3):138-40. Epub 2010 May 25 doi: 10.1258/td.2010.090329. PMID: 20501627

Diagnosis

Tonni G, Lituania M, Chitayat D, Bonasoni MP, Keating S, Thompson M, Shannon P
Taiwan J Obstet Gynecol 2014 Dec;53(4):592-7. doi: 10.1016/j.tjog.2014.01.005. PMID: 25510707
Maezawa H, Matsuhashi M, Yoshida K, Mima T, Nagamine T, Fukuyama H
Clin Neurophysiol 2014 Feb;125(2):363-9. Epub 2013 Sep 12 doi: 10.1016/j.clinph.2013.07.017. PMID: 24035362
Grollemund B, Guedeney A, Vazquez MP, Picard A, Soupre V, Pellerin P, Simon E, Velten M, Dissaux C, Kauffmann I, Bruant-Rodier C, Danion-Grilliat A
BMC Pediatr 2012 Jun 8;12:65. doi: 10.1186/1471-2431-12-65. PMID: 22682069Free PMC Article
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC
Am J Med Genet A 2011 Oct;155A(10):2465-8. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34205. PMID: 21910233
Vazquez L, Lombardi T, Guinand-Mkinsi H, Samson J
J Ultrasound Med 2005 Sep;24(9):1295-301. PMID: 16123190

Therapy

Potpara TS, Lip GY, Larsen TB, Madrid A, Dobreanu D, Jędrzejczyk-Patej E, Dagres N; conducted by the Scientific Initiatives Committee, European Heart Rhythm Association.
Europace 2016 Oct;18(10):1593-1598. doi: 10.1093/europace/euw302. PMID: 27876696
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511
Grollemund B, Guedeney A, Vazquez MP, Picard A, Soupre V, Pellerin P, Simon E, Velten M, Dissaux C, Kauffmann I, Bruant-Rodier C, Danion-Grilliat A
BMC Pediatr 2012 Jun 8;12:65. doi: 10.1186/1471-2431-12-65. PMID: 22682069Free PMC Article
Bentley JM, Barankin B, Lauzon GJ
Can Fam Physician 2003 Sep;49:1111-6. PMID: 14526863Free PMC Article
Ozkinay F, Cogulu O, Gunduz C, Yilmaz D, Kultursay N
Mutat Res 2003 Jan 10;534(1-2):197-9. PMID: 12504768

Prognosis

Ladani P, Sailer HF, Sabnis R
J Craniomaxillofac Surg 2013 Dec;41(8):735-9. Epub 2013 Feb 28 doi: 10.1016/j.jcms.2012.12.009. PMID: 23454264
Pratap A, Agrawal A, Tiwari A, Lakshmi R, Rajbanshi S
Singapore Med J 2007 Feb;48(2):e66-7. PMID: 17304384
Vazquez L, Lombardi T, Guinand-Mkinsi H, Samson J
J Ultrasound Med 2005 Sep;24(9):1295-301. PMID: 16123190
Schnitt DE, Agir H, David DJ
Plast Reconstr Surg 2004 Mar;113(3):805-17. PMID: 15108870
Bentley JM, Barankin B, Lauzon GJ
Can Fam Physician 2003 Sep;49:1111-6. PMID: 14526863Free PMC Article

Clinical prediction guides

Mikulewicz M, Ogiński T, Gedrange T, Berniczei-Royko A, Prussak E
Med Sci Monit 2014 Mar 3;20:355-60. doi: 10.12659/MSM.890386. PMID: 24584216Free PMC Article
Agarwal R, Chandra R
J Craniofac Surg 2012 Sep;23(5):1349-54. doi: 10.1097/SCS.0b013e31826467e5. PMID: 22948620
Grollemund B, Guedeney A, Vazquez MP, Picard A, Soupre V, Pellerin P, Simon E, Velten M, Dissaux C, Kauffmann I, Bruant-Rodier C, Danion-Grilliat A
BMC Pediatr 2012 Jun 8;12:65. doi: 10.1186/1471-2431-12-65. PMID: 22682069Free PMC Article
Sagheri D, Ravens-Sieberer U, Braumann B, von Mackensen S
J Orofac Orthop 2009 Jul;70(4):274-84. Epub 2009 Aug 2 doi: 10.1007/s00056-009-9906-1. PMID: 19649575
Shriver AS, Canady J, Richman L, Andreasen NC, Nopoulos P
J Child Psychol Psychiatry 2006 Oct;47(10):994-1002. doi: 10.1111/j.1469-7610.2006.01679.x. PMID: 17073978

Recent systematic reviews

Chi CC, Wang SH, Wojnarowska F, Kirtschig G, Davies E, Bennett C
Cochrane Database Syst Rev 2015 Oct 26;(10):CD007346. doi: 10.1002/14651858.CD007346.pub3. PMID: 26497573
Landgraf MN, Nothacker M, Kopp IB, Heinen F
Dtsch Arztebl Int 2013 Oct;110(42):703-10. Epub 2013 Oct 18 doi: 10.3238/arztebl.2013.0703. PMID: 24223670Free PMC Article
Chi CC, Lee CW, Wojnarowska F, Kirtschig G
Cochrane Database Syst Rev 2009 Jul 8;(3):CD007346. doi: 10.1002/14651858.CD007346.pub2. PMID: 19588425
Dostal A, Nemeckova J, Gaillyova R
J Craniomaxillofac Surg 2009 Jul;37(5):272-5. Epub 2009 Jan 20 doi: 10.1016/j.jcms.2008.12.002. PMID: 19157891
Bentley JM, Barankin B, Lauzon GJ
Can Fam Physician 2003 Sep;49:1111-6. PMID: 14526863Free PMC Article

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