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Abnormal facial skeleton morphology

MedGen UID:
746145
•Concept ID:
C2315229
•
Anatomical Abnormality
Synonym: Abnormality of facial skeleton
SNOMED CT: Deformity of facial bone (433096001); Deformity of bone of face (433096001)
 
HPO: HP:0011821

Definition

An abnormality of one or more of the set of bones that make up the facial skeleton. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal facial skeleton morphology

Professional guidelines

PubMed

Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Diagnosis and treatment of temporomandibular disorders.
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Excessive gingival display--etiology, diagnosis, and treatment modalities.
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712

Recent clinical studies

Etiology

Phenotypic spectrum of Tessier facial cleft number 5.
Racz C, Dakpé S, Kadlub N, Testelin S, Devauchelle B, Rachwalski M, Picard A
J Craniomaxillofac Surg 2018 Jan;46(1):22-27. Epub 2017 Oct 27 doi: 10.1016/j.jcms.2017.10.012. PMID: 29239768
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Elements of morphology: standard terminology for the head and face.
Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G
Am J Med Genet A 2009 Jan;149A(1):6-28. doi: 10.1002/ajmg.a.32612. PMID: 19125436Free PMC Article
Abnormal craniofacial growth.
Friede H
Acta Odontol Scand 1995 Jun;53(3):203-9. doi: 10.3109/00016359509005973. PMID: 7572098
Genioplasty.
Spear SL, Kassan M
Clin Plast Surg 1989 Oct;16(4):695-706. PMID: 2680217

Diagnosis

Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
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
Excessive gingival display--etiology, diagnosis, and treatment modalities.
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712
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
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Monobloc Distraction and Facial Bipartition Distraction with External Devices.
Dunaway DJ, Budden C, Ong J, James G, Jeelani NUO
Clin Plast Surg 2021 Jul;48(3):507-519. doi: 10.1016/j.cps.2021.03.004. PMID: 34051902
Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.
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
Fetal Valproate Syndrome.
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Genioplasty.
Stanton DC
Facial Plast Surg 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. PMID: 12739183

Prognosis

Otopathologic Abnormalities in CHARGE Syndrome.
da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S
Otolaryngol Head Neck Surg 2022 Feb;166(2):363-372. Epub 2021 Apr 20 doi: 10.1177/01945998211008911. PMID: 33874787
Early Orthognathic Surgery: A Review.
Alwadei S
J Contemp Dent Pract 2017 Mar 1;18(3):250-256. PMID: 28258274
Excessive gingival display--etiology, diagnosis, and treatment modalities.
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Characterization of the orbital volume in normal population.
Andrades P, Cuevas P, Hernández R, Danilla S, Villalobos R
J Craniomaxillofac Surg 2018 Apr;46(4):594-599. Epub 2018 Feb 14 doi: 10.1016/j.jcms.2018.02.003. PMID: 29534909
Early Orthognathic Surgery: A Review.
Alwadei S
J Contemp Dent Pract 2017 Mar 1;18(3):250-256. PMID: 28258274
Anterior plagiocephaly: epidemiology, clinical findings,diagnosis, and classification. A review.
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257
Excessive gingival display--etiology, diagnosis, and treatment modalities.
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712
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

Recent systematic reviews

Craniofacial morphology in down syndrome: a systematic review and meta-analysis.
Vicente A, Bravo-González LA, López-Romero A, Muñoz CS, Sánchez-Meca J
Sci Rep 2020 Nov 16;10(1):19895. doi: 10.1038/s41598-020-76984-5. PMID: 33199843Free PMC Article
Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.
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
Vertebral anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2017 Oct;46(10):1319-1329. Epub 2017 Jun 29 doi: 10.1016/j.ijom.2017.04.025. PMID: 28669484
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
Hard palate-repair technique and facial growth in patients with cleft lip and palate: a systematic review.
Lee YH, Liao YF
Br J Oral Maxillofac Surg 2013 Dec;51(8):851-7. Epub 2013 Sep 14 doi: 10.1016/j.bjoms.2013.08.012. PMID: 24045106

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