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Abnormal oral physiology

MedGen UID:
1631824
•Concept ID:
C4703551
•
Disease or Syndrome
HPO: HP:0031815

Definition

A functional anomaly of the mouth (which is also known as the oral cavity). [from HPO]

Professional guidelines

PubMed

Diagnosis and Management of Multiple Myeloma: A Review.
Cowan AJ, Green DJ, Kwok M, Lee S, Coffey DG, Holmberg LA, Tuazon S, Gopal AK, Libby EN
JAMA 2022 Feb 1;327(5):464-477. doi: 10.1001/jama.2022.0003. PMID: 35103762
Clinical Management of Hyperkalemia.
Palmer BF, Carrero JJ, Clegg DJ, Colbert GB, Emmett M, Fishbane S, Hain DJ, Lerma E, Onuigbo M, Rastogi A, Roger SD, Spinowitz BS, Weir MR
Mayo Clin Proc 2021 Mar;96(3):744-762. Epub 2020 Nov 5 doi: 10.1016/j.mayocp.2020.06.014. PMID: 33160639
Diagnosis and treatment of temporomandibular disorders.
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556

Recent clinical studies

Etiology

Identification of genomic imbalances in oral clefts.
Lustosa-Mendes E, Santos APD, Vieira TP, Ribeiro EM, Rezende AA, Fett-Conte AC, Cavalcanti DP, Félix TM, Monlleó IL, Gil-da-Silva-Lopes VL
J Pediatr (Rio J) 2021 May-Jun;97(3):321-328. Epub 2020 Jul 21 doi: 10.1016/j.jped.2020.06.005. PMID: 32707036Free PMC Article
Hypophosphatasia: oral cavity and dental disorders.
Bloch-Zupan A, Vaysse F
Arch Pediatr 2017 May;24(5S2):5S80-5S84. doi: 10.1016/S0929-693X(18)30020-4. PMID: 29405938
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
Preterm infants--odontological aspects.
Rythén M
Swed Dent J Suppl 2012;(224):2p preceding i-vi, 1-106. PMID: 22755470
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Diagnosis

Molecular-based phenotype variations in amelogenesis imperfecta.
Dong J, Ruan W, Duan X
Oral Dis 2023 Sep;29(6):2334-2365. Epub 2023 May 8 doi: 10.1111/odi.14599. PMID: 37154292
Hypophosphatasia: oral cavity and dental disorders.
Bloch-Zupan A, Vaysse F
Arch Pediatr 2017 May;24(5S2):5S80-5S84. doi: 10.1016/S0929-693X(18)30020-4. PMID: 29405938
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Therapy

Gene-environment interaction in molar-incisor hypomineralization.
Bezamat M, Souza JF, Silva FMF, Corrêa EG, Fatturi AL, Brancher JA, Carvalho FM, Cavallari T, Bertolazo L, Machado-Souza C, Koruyucu M, Bayram M, Racic A, Harrison BM, Sweat YY, Letra A, Studen-Pavlovich D, Seymen F, Amendt B, Werneck RI, Costa MC, Modesto A, Vieira AR
PLoS One 2021;16(1):e0241898. Epub 2021 Jan 6 doi: 10.1371/journal.pone.0241898. PMID: 33406080Free PMC Article
Diabetes in pregnancy.
McCance DR
Best Pract Res Clin Obstet Gynaecol 2015 Jul;29(5):685-99. Epub 2015 Apr 28 doi: 10.1016/j.bpobgyn.2015.04.009. PMID: 26004196
Protein-mediated enamel mineralization.
Moradian-Oldak J
Front Biosci (Landmark Ed) 2012 Jun 1;17(6):1996-2023. doi: 10.2741/4034. PMID: 22652761Free PMC Article
Palatogenesis: engineering, pathways and pathologies.
Levi B, Brugman S, Wong VW, Grova M, Longaker MT, Wan DC
Organogenesis 2011 Oct-Dec;7(4):242-54. Epub 2011 Oct 1 doi: 10.4161/org.7.4.17926. PMID: 21964245Free PMC Article
Amenorrhea.
Marchant DJ
Clin Obstet Gynecol 1969 Sep;12(3):693-707. doi: 10.1097/00003081-196909000-00010. PMID: 5388335

Prognosis

Comparison between Cultivated Oral Mucosa and Ocular Surface Epithelia for COMET Patients Follow-Up.
Attico E, Galaverni G, Torello A, Bianchi E, Bonacorsi S, Losi L, Manfredini R, Lambiase A, Rama P, Pellegrini G
Int J Mol Sci 2023 Jul 15;24(14) doi: 10.3390/ijms241411522. PMID: 37511281Free PMC Article
Abnormal cytology in oropharyngeal brushings and in oral rinses is not associated with HPV infection: The OHMAR study.
Benevolo M, Rollo F, Giuliani M, Pichi B, Latini A, Pellini R, Vescio MF, Morrone A, Cristaudo A, Donà MG
Cancer Cytopathol 2020 Sep;128(9):648-655. Epub 2020 Jun 2 doi: 10.1002/cncy.22295. PMID: 32485093
Congenital diseases of the gastrointestinal tract.
Lentze M
Georgian Med News 2014 May;(230):46-53. PMID: 24940857
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Down's syndrome and oral care.
Fiske J, Shafik HH
Dent Update 2001 Apr;28(3):148-56. doi: 10.12968/denu.2001.28.3.148. PMID: 11819976

Clinical prediction guides

Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614
Hypodontia: An Update on Its Etiology, Classification, and Clinical Management.
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta-analysis.
Almeida FT, Pachêco-Pereira C, Porporatti AL, Flores-Mir C, Leite AF, De Luca Canto G, Guerra EN
J Gastroenterol Hepatol 2016 Mar;31(3):527-40. doi: 10.1111/jgh.13149. PMID: 26331960
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Further delineation of the branchio-oculo-facial syndrome.
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P
Am J Med Genet 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. PMID: 7747785

Recent systematic reviews

Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
Broutin A, K Bidi-Lebihan A, Canceill T, Vaysse F, Bloch-Zupan A, Bailleul-Forestier I, Noirrit-Esclassan E
Int Orthod 2023 Dec;21(4):100789. Epub 2023 Jul 24 doi: 10.1016/j.ortho.2023.100789. PMID: 37494776
Gastroschisis: a systematic review of diagnosis, prognosis and treatment.
Ferreira RG, Mendonça CR, Gonçalves Ramos LL, de Abreu Tacon FS, Naves do Amaral W, Ruano R
J Matern Fetal Neonatal Med 2022 Dec;35(25):6199-6212. Epub 2021 Apr 25 doi: 10.1080/14767058.2021.1909563. PMID: 33899664
Advances in Pathogenesis of Sjögren's Syndrome.
Tian Y, Yang H, Liu N, Li Y, Chen J
J Immunol Res 2021;2021:5928232. Epub 2021 Oct 7 doi: 10.1155/2021/5928232. PMID: 34660815Free PMC Article
Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review.
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604
Oral Spironolactone for Acne Vulgaris in Adult Females: A Hybrid Systematic Review.
Layton AM, Eady EA, Whitehouse H, Del Rosso JQ, Fedorowicz Z, van Zuuren EJ
Am J Clin Dermatol 2017 Apr;18(2):169-191. doi: 10.1007/s40257-016-0245-x. PMID: 28155090Free PMC Article

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