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Craniofacial Abnormalities

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
Synonyms: Abnormalities, Craniofacial; Abnormality, Craniofacial; Craniofacial Abnormality

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniofacial Abnormalities

Professional guidelines

PubMed

Wiechers C, Thjen T, Koos B, Reinert S, Poets CF
Arch Dis Child Fetal Neonatal Ed 2021 Jan;106(1):104-109. Epub 2020 May 14 doi: 10.1136/archdischild-2019-317890. PMID: 32409560
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Recent clinical studies

Etiology

Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Akram A, McKnight MM, Bellardie H, Beale V, Evans RD
Br Dent J 2015 Feb 16;218(3):129-41. doi: 10.1038/sj.bdj.2015.48. PMID: 25686430
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
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

Diagnosis

Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Schock EN, Brugmann SA
Cold Spring Harb Perspect Biol 2017 Sep 1;9(9) doi: 10.1101/cshperspect.a028258. PMID: 28213462Free PMC Article
Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278

Therapy

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578
Piazza M, Grady MS
Neurosurg Clin N Am 2017 Apr;28(2):257-265. doi: 10.1016/j.nec.2016.11.008. PMID: 28325460
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B13-B16. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.178. PMID: 33168217
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278
Dolk H, Loane M, Garne E
Adv Exp Med Biol 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20. PMID: 20824455

Clinical prediction guides

Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
PLoS Genet 2017 Oct;13(10):e1006864. Epub 2017 Oct 25 doi: 10.1371/journal.pgen.1006864. PMID: 29069077Free PMC Article
Schock EN, Brugmann SA
Cold Spring Harb Perspect Biol 2017 Sep 1;9(9) doi: 10.1101/cshperspect.a028258. PMID: 28213462Free PMC Article
Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Recent systematic reviews

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC
Oral Dis 2021 May;27(4):881-893. Epub 2020 May 25 doi: 10.1111/odi.13369. PMID: 32335995
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
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article
Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

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