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Abnormal mandible morphology

MedGen UID:
871374
Concept ID:
C4025870
Anatomical Abnormality
Synonym: Abnormality of the mandible
 
HPO: HP:0000277

Definition

Any abnormality of the mandible, the bone of the lower jaw. [from HPO]

Conditions with this feature

Osteomas of mandible
MedGen UID:
318953
Concept ID:
C1833733
Disease or Syndrome
Multiple pterygium-malignant hyperthermia syndrome
MedGen UID:
347490
Concept ID:
C1857576
Disease or Syndrome
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.

Professional guidelines

PubMed

Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
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
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article

Recent clinical studies

Etiology

Shin D, Keum HI, Yoo SR, Lim HJ, Kim BC
J Craniofac Surg 2024 Jul-Aug 01;35(5):e418-e421. Epub 2024 Mar 13 doi: 10.1097/SCS.0000000000010078. PMID: 38477598
Gonçalves Ferraz B, Vendramini-Pittoli S, Gomes LP, Madeira Brandão M, Alonso N, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):e398-e401. Epub 2023 May 1 doi: 10.1097/SCS.0000000000009326. PMID: 37126414
Huang L, Tang S, Yan J, Liu Y, Piao Z
Surg Radiol Anat 2022 Apr;44(4):551-558. Epub 2022 Mar 18 doi: 10.1007/s00276-022-02912-z. PMID: 35303119Free PMC Article
Jurek A, Gozdowski D, Czochrowska EM, Zadurska M
Int J Environ Res Public Health 2021 Nov 12;18(22) doi: 10.3390/ijerph182211876. PMID: 34831629Free PMC Article
Chen EH, Reid RR, Chike-Obi C, Minugh-Purvis N, Whitaker LA, Puchala J, Bartlett SP
Plast Reconstr Surg 2009 Aug;124(2):583-589. doi: 10.1097/PRS.0b013e3181addba9. PMID: 19644278

Diagnosis

Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Sharma N, Passi S
Indian J Dent Res 2013 Jan-Feb;24(1):149. doi: 10.4103/0970-9290.114952. PMID: 23852257
Papagrigorakis MJ, Karamolegou M, Vilos G, Apostolidis C, Karamesinis K, Synodinos PN
Angle Orthod 2012 May;82(3):556-64. Epub 2011 Nov 3 doi: 10.2319/052911-356.1. PMID: 22050072Free PMC Article
Mohamed Riyaz SS, Jayachandran S
Indian J Dent Res 2009 Oct-Dec;20(4):508-10. doi: 10.4103/0970-9290.59442. PMID: 20139583

Therapy

Liles SI, C Hoppe I, Arnold L
Cleft Palate Craniofac J 2023 Dec;60(12):1665-1673. Epub 2022 Jul 12 doi: 10.1177/10556656221113891. PMID: 35821585
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
Borzabadi-Farahani A
J Oral Implantol 2012 Dec;38(6):779-91. Epub 2011 Jul 5 doi: 10.1563/AAID-JOI-D-11-00022. PMID: 21728818
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-7. doi: 10.1097/01.prs.0000305931.98111.c3. PMID: 18379385
Stanton DC
Facial Plast Surg 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. PMID: 12739183

Prognosis

Dalessandri D, Parrini S, Rubiano R, Gallone D, Migliorati M
Eur J Orthod 2017 Apr 1;39(2):161-169. doi: 10.1093/ejo/cjw027. PMID: 27036134
Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C
Genet Couns 2010;21(4):359-62. PMID: 21290964
Gekas J, Li B, Kamnasaran D
Eur J Med Genet 2010 Nov-Dec;53(6):358-66. Epub 2010 Sep 16 doi: 10.1016/j.ejmg.2010.09.002. PMID: 20849990
Yamaguchi T, Dorfman HD, Eisig S
Skeletal Radiol 1999 Jun;28(6):350-3. doi: 10.1007/s002560050530. PMID: 10450884
Silverman FN, Strefling AM, Stevenson DK, Lazarus J
J Pediatr 1980 Sep;97(3):406-16. doi: 10.1016/s0022-3476(80)80190-9. PMID: 7411303

Clinical prediction guides

Gonçalves Ferraz B, Vendramini-Pittoli S, Gomes LP, Madeira Brandão M, Alonso N, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):e398-e401. Epub 2023 May 1 doi: 10.1097/SCS.0000000000009326. PMID: 37126414
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
Alwadei S
J Contemp Dent Pract 2017 Mar 1;18(3):250-256. PMID: 28258274
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP
Am J Med Genet 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. PMID: 8882789
Obwegeser HL, Makek MS
J Maxillofac Surg 1986 Aug;14(4):183-208. doi: 10.1016/s0301-0503(86)80290-9. PMID: 3461097

Recent systematic reviews

Landim AA, Peralta-Mamani M, Landim GA, Franco A, Junqueira JLC, Soares MQS
Head Neck Pathol 2024 Oct 22;18(1):110. doi: 10.1007/s12105-024-01717-3. PMID: 39436514Free PMC Article
Lafuente-Ibáñez de Mendoza I, Aguirre-Urizar JM, Villatoro-Ugalde V, Magaña-Quiñones JJ, Lana-Ojeda J, Mosqueda-Taylor A
Oral Dis 2022 May;28(4):1198-1206. Epub 2021 Mar 21 doi: 10.1111/odi.13834. PMID: 33682271
Detsky ME, Jivraj N, Adhikari NK, Friedrich JO, Pinto R, Simel DL, Wijeysundera DN, Scales DC
JAMA 2019 Feb 5;321(5):493-503. doi: 10.1001/jama.2018.21413. PMID: 30721300
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Dalessandri D, Parrini S, Rubiano R, Gallone D, Migliorati M
Eur J Orthod 2017 Apr 1;39(2):161-169. doi: 10.1093/ejo/cjw027. PMID: 27036134

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