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Maxillofacial Abnormalities

MedGen UID:
101209
•Concept ID:
C0524948
•
Congenital Abnormality
Synonyms: Abnormalities, Maxillofacial; Abnormality, Maxillofacial; Maxillofacial Abnormality

Definition

Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones. [from MeSH]

Professional guidelines

PubMed

Effects of nutrition and hormones on functional appliance treatment outcome in patients with skeletal Class II malocclusion.
Zhang X, Yi J, Li Y
J World Fed Orthod 2020 Mar;9(1):9-12. Epub 2020 Feb 19 doi: 10.1016/j.ejwf.2020.01.004. PMID: 32672667
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
Panny A, Glurich I, Haws RM, Acharya A
J Dent Res 2017 Nov;96(12):1361-1369. Epub 2017 Jun 29 doi: 10.1177/0022034517716913. PMID: 28662344Free PMC Article
Dental and maxillofacial abnormalities in long-term survivors of childhood cancer: effects of treatment with chemotherapy and radiation to the head and neck.
Jaffe N, Toth BB, Hoar RE, Ried HL, Sullivan MP, McNeese MD
Pediatrics 1984 Jun;73(6):816-23. PMID: 6728583

Recent clinical studies

Etiology

Ear identification: A multi-ethnic study sample.
Angelakopoulos N, Franco A, Sezgin N, Cevik ZA, Canturk N, Panciera MC, Pinto PHV, Alves da Silva RH, Balla SB, Kumagai A, Zolotenkova G, Silveira Sousa AM, Ferrante L, Cameriere R
Morphologie 2023 Dec;107(359):100602. Epub 2023 May 23 doi: 10.1016/j.morpho.2023.05.001. PMID: 37230829
Dental and maxillofacial manifestations of Steinert's myotonic dystrophy: A retrospective case series and therapeutic investigation.
Usseglio J, Pagès E, Touzet-Roumazeille S, Brie J, Salle L, Ferri J
J Stomatol Oral Maxillofac Surg 2022 Nov;123(6):e995-e1001. Epub 2022 Jun 22 doi: 10.1016/j.jormas.2022.06.017. PMID: 35752440
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Cosmetic maxillofacial surgery.
Fattahi T, Bolding SL, Griffin JE Jr, Owsley TG
J Oral Maxillofac Surg 2012 Nov;70(11 Suppl 3):e310-30. doi: 10.1016/j.joms.2012.07.039. PMID: 23128006
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Binder syndrome.
Chummun S, McLean NR, Nugent M, Anderson PJ, David DJ
J Craniofac Surg 2012 Jul;23(4):986-90. doi: 10.1097/SCS.0b013e31824e2683. PMID: 22777437
Binder's syndrome.
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free PMC Article
Developmental maxillofacial anomalies.
Baxter DJ, Shroff MM
Semin Ultrasound CT MR 2011 Dec;32(6):555-68. doi: 10.1053/j.sult.2011.06.004. PMID: 22108218
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Therapy

Effects of nutrition and hormones on functional appliance treatment outcome in patients with skeletal Class II malocclusion.
Zhang X, Yi J, Li Y
J World Fed Orthod 2020 Mar;9(1):9-12. Epub 2020 Feb 19 doi: 10.1016/j.ejwf.2020.01.004. PMID: 32672667
Incidental findings in pre-orthodontic treatment radiographs.
Hernández G, Plaza SP, Cifuentes D, Villalobos LM, Ruiz LM
Int Dent J 2018 Oct;68(5):320-326. Epub 2018 Apr 1 doi: 10.1111/idj.12389. PMID: 29607488Free PMC Article
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Bone and maxillofacial abnormalities in thalassemia: a review of the literature.
Di Matteo R, Liuzza F, Manicone PF, Raffaelli L, Berardi D, Perfetti G, Maccauro G
J Biol Regul Homeost Agents 2008 Oct-Dec;22(4):211-6. PMID: 19036222
The role of folic acid in oral clefting.
Hartridge T, Illing HM, Sandy JR
Br J Orthod 1999 Jun;26(2):115-20. doi: 10.1093/ortho/26.2.115. PMID: 10420245

Prognosis

Adolescent and Young Adult Oral Maxillofacial Tumors: A Single-Institution Case Series and Literature Review.
George AP, Markiewicz MR, Garzon S, Choi DK
J Adolesc Young Adult Oncol 2020 Apr;9(2):307-312. Epub 2019 Dec 20 doi: 10.1089/jayao.2019.0111. PMID: 31859579Free PMC Article
Standardizing Terminology and Assessment for Orofacial Conditions in Juvenile Idiopathic Arthritis: International, Multidisciplinary Consensus-based Recommendations.
Stoustrup P, Resnick CM, Pedersen TK, Abramowicz S, Michelotti A, Küseler A, Verna C, Kellenberger CJ, Nordal EB, Caserta G, Jankovska I, Halbig JM, Kristensen KD, Arvidsson LZ, Spiegel L, Stoll ML, Lerman M, Glerup M, Defabianis P, Frid P, Alstergren P, Cron RQ, Ringold S, Nørholt SE, Peltomäki T, Herlin T, Peacock ZS, Twilt M; TMJ Juvenile Arthritis Working Group
J Rheumatol 2019 May;46(5):518-522. Epub 2019 Jan 15 doi: 10.3899/jrheum.180785. PMID: 30647179
Current perspectives on the etiology of agnathia-otocephaly.
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
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Orthodontic management of dentofacial skeletal deformities.
Grubb J, Evans C
Clin Plast Surg 2007 Jul;34(3):403-15. doi: 10.1016/j.cps.2007.05.002. PMID: 17692700

Clinical prediction guides

Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.
Taqi D, Nematollahi S, Lemin S, Rauch F, Hamdy R, Dahan-Oliel N
Bone 2024 Feb;179:116955. Epub 2023 Nov 10 doi: 10.1016/j.bone.2023.116955. PMID: 37951521
Incidental findings in pre-orthodontic treatment radiographs.
Hernández G, Plaza SP, Cifuentes D, Villalobos LM, Ruiz LM
Int Dent J 2018 Oct;68(5):320-326. Epub 2018 Apr 1 doi: 10.1111/idj.12389. PMID: 29607488Free PMC Article
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Treatment strategy in Goldenhar syndrome.
Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M
J Craniofac Surg 2014 Jan;25(1):177-83. doi: 10.1097/SCS.0000000000000387. PMID: 24406574
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Recent systematic reviews

Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.
Taqi D, Nematollahi S, Lemin S, Rauch F, Hamdy R, Dahan-Oliel N
Bone 2024 Feb;179:116955. Epub 2023 Nov 10 doi: 10.1016/j.bone.2023.116955. PMID: 37951521
Efficacy of rhBMP-2 in Cleft Lip and Palate Defects: Systematic Review and Meta-analysis.
da Rosa WLO, da Silva TM, Galarça AD, Piva E, da Silva AF
Calcif Tissue Int 2019 Feb;104(2):115-129. Epub 2018 Oct 26 doi: 10.1007/s00223-018-0486-1. PMID: 30367200
Influence of low-level laser therapy on the healing of human bone maxillofacial defects: A systematic review.
Santinoni CD, Oliveira HF, Batista VE, Lemos CA, Verri FR
J Photochem Photobiol B 2017 Apr;169:83-89. Epub 2017 Mar 7 doi: 10.1016/j.jphotobiol.2017.03.004. PMID: 28292696
Temporomandibular Joint Disorders in Patients With Different Facial Morphology. A Systematic Review of the Literature.
Manfredini D, Segù M, Arveda N, Lombardo L, Siciliani G, Alessandro Rossi, Guarda-Nardini L
J Oral Maxillofac Surg 2016 Jan;74(1):29-46. Epub 2015 Jul 18 doi: 10.1016/j.joms.2015.07.006. PMID: 26255097
Orthognathic treatment and temporomandibular disorders: a systematic review. Part 2. Signs and symptoms and meta-analyses.
Al-Riyami S, Cunningham SJ, Moles DR
Am J Orthod Dentofacial Orthop 2009 Nov;136(5):626.e1-16, discussion 626-7. doi: 10.1016/j.ajodo.2009.02.022. PMID: 19892270

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