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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
Lines PA, Steinhauser EW
Am J Orthod 1974 Oct;66(4):378-97. doi: 10.1016/0002-9416(74)90048-7. PMID: 4608690

Recent clinical studies

Etiology

Triaca A, Brusco D, Minoretti R, Saulacic N
J Craniofac Surg 2015 Oct;26(7):e561-2. doi: 10.1097/SCS.0000000000001952. PMID: 26468819
Schleich AR, Eppley BL
J Craniofac Surg 2009 Sep;20(5):1478-83. doi: 10.1097/SCS.0b013e3181b09a49. PMID: 19816282
Gupta RK, Jadhav V, Gupta A, Sanghvi B, Shah H, Parelkar S
J Pediatr Surg 2008 Aug;43(8):1421-5. doi: 10.1016/j.jpedsurg.2007.12.072. PMID: 18675628
Komori E, Aigase K, Sugisaki M, Tanabe H
Am J Orthod Dentofacial Orthop 1987 Nov;92(5):412-21. doi: 10.1016/0889-5406(87)90262-9. PMID: 3479009
Leung AK
Am J Dis Child 1986 Mar;140(3):249-51. doi: 10.1001/archpedi.1986.02140170075033. PMID: 3946356

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
Chaitra TR, Goswami M, Chaudhary S, Kulkarni A
BMJ Case Rep 2012 Aug 13;2012 doi: 10.1136/bcr-2012-006437. PMID: 22891022Free 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
Yamaguchi T, Dorfman HD, Eisig S
Skeletal Radiol 1999 Jun;28(6):350-3. doi: 10.1007/s002560050530. PMID: 10450884
GORLIN RJ, JUE KL, JACOBSEN U, GOLDSCHMIDT E
J Pediatr 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4. PMID: 14071056

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
Northcutt ME
J Clin Orthod 2009 Sep;43(9):557-65; quiz 581. PMID: 19904047
Stanton DC
Facial Plast Surg 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. PMID: 12739183
Ousterhout DK
Clin Plast Surg 1991 Jan;18(1):153-61. PMID: 2015741

Prognosis

Mohan A
J Oral Maxillofac Surg 2018 May;76(5):1096.e1-1096.e6. Epub 2018 Feb 2 doi: 10.1016/j.joms.2018.01.017. PMID: 29447830
Rough J, Hindin DI, Lee JC, Bradley JP
J Craniofac Surg 2016 Jan;27(1):e109-11. doi: 10.1097/SCS.0000000000002339. PMID: 26745197
Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C
Genet Couns 2010;21(4):359-62. PMID: 21290964
Gupta RK, Jadhav V, Gupta A, Sanghvi B, Shah H, Parelkar S
J Pediatr Surg 2008 Aug;43(8):1421-5. doi: 10.1016/j.jpedsurg.2007.12.072. PMID: 18675628
Yamaguchi T, Dorfman HD, Eisig S
Skeletal Radiol 1999 Jun;28(6):350-3. doi: 10.1007/s002560050530. PMID: 10450884

Clinical prediction guides

Shimizu T, Yokoo S, Takayama Y, Musha A, Ogawa M, Makiguchi T
J Craniofac Surg 2021 Jun 1;32(4):e377-e378. doi: 10.1097/SCS.0000000000007298. PMID: 33306643
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
Sekhar M, Selvaraj L
Indian J Dent Res 2015 Nov-Dec;26(6):641-3. doi: 10.4103/0970-9290.176934. PMID: 26888246
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

Recent systematic reviews

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
Borrás-Ferreres J, Sánchez-Torres A, Gay-Escoda C
Med Oral Patol Oral Cir Bucal 2018 Nov 1;23(6):e672-e680. doi: 10.4317/medoral.22681. PMID: 30341271Free PMC Article
Wu C, Pan W, Feng C, Su Z, Duan Z, Zheng Q, Hua C, Li C
Int J Oral Maxillofac Surg 2018 Mar;47(3):345-356. Epub 2017 Aug 31 doi: 10.1016/j.ijom.2017.08.003. PMID: 28863859
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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