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Facial shape deformation

MedGen UID:
866806
•Concept ID:
C4021159
•
Anatomical Abnormality
Synonyms: Distortion of facial shape; Facial shape compression
 
HPO: HP:0011334

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Facial shape deformation

Professional guidelines

PubMed

Management of the diabetic foot.
Bellomo TR, Lee S, McCarthy M, Tong KPS, Ferreira SS, Cheung TP, Rose-Sauld S
Semin Vasc Surg 2022 Jun;35(2):219-227. Epub 2022 Apr 12 doi: 10.1053/j.semvascsurg.2022.04.002. PMID: 35672112
Treatment of Deformational Plagiocephaly With Physiotherapy.
Di Chiara A, La Rosa E, Ramieri V, Vellone V, Cascone P
J Craniofac Surg 2019 Oct;30(7):2008-2013. doi: 10.1097/SCS.0000000000005665. PMID: 31232996
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

Recent clinical studies

Etiology

Isolated Lambdoid Craniosynostosis.
Borad V, Cordes EJ, Liljeberg KM, Sylvanus TS, Lim PK, Wood RJ
J Craniofac Surg 2019 Nov-Dec;30(8):2390-2392. doi: 10.1097/SCS.0000000000006058. PMID: 31633668
A Geometric Classification of Jaw Deformities.
Gateno J, Alfi D, Xia JJ, Teichgraeber JF
J Oral Maxillofac Surg 2015 Dec;73(12 Suppl):S26-31. doi: 10.1016/j.joms.2015.05.019. PMID: 26608152Free PMC Article
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
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
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Diagnosis

Child with KBG syndrome.
Jyothi BN, Angel S, Ravi Kumar CP, Tamhankar PM
BMJ Case Rep 2024 Dec 4;17(12) doi: 10.1136/bcr-2024-260238. PMID: 39631901
Dome-Shaped Periorbital Papule.
Ewulu A, Tran B, Cardis M
Cutis 2023 Feb;111(2):91-100. doi: 10.12788/cutis.0709. PMID: 37075188
Trichorhinophalangeal syndrome.
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
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
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906

Therapy

Dorsal Failures: From Saddle Deformity to Pollybeak.
Hamilton GS 3rd
Facial Plast Surg 2018 Jun;34(3):261-269. Epub 2018 Jun 1 doi: 10.1055/s-0038-1653990. PMID: 29857336
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
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Magical NiTi expander.
Katti CG, Katti G, Kallur R, Ghali SR
BMJ Case Rep 2013 Jul 17;2013 doi: 10.1136/bcr-2013-009140. PMID: 23867876Free PMC Article
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Prognosis

Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Body Shaping and Volume Restoration: The Role of Hyaluronic Acid.
Hedén P, Sellman G, von Wachenfeldt M, Olenius M, Fagrell D
Aesthetic Plast Surg 2020 Aug;44(4):1286-1294. Epub 2020 Aug 5 doi: 10.1007/s00266-020-01826-8. PMID: 32766916
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
Noonan syndrome.
Turner AM
J Paediatr Child Health 2014 Oct;50(10):E14-20. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2010.01970.x. PMID: 21771153
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

Clinical prediction guides

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M
Am J Hum Genet 2024 Mar 7;111(3):487-508. Epub 2024 Feb 6 doi: 10.1016/j.ajhg.2024.01.007. PMID: 38325380Free PMC Article
Body Shaping and Volume Restoration: The Role of Hyaluronic Acid.
Hedén P, Sellman G, von Wachenfeldt M, Olenius M, Fagrell D
Aesthetic Plast Surg 2020 Aug;44(4):1286-1294. Epub 2020 Aug 5 doi: 10.1007/s00266-020-01826-8. PMID: 32766916
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
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
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

The Role of Postoperative Nasal Stents in Cleft Rhinoplasty: A Systematic Review.
Nguyen DC, Myint JA, Lin AY
Cleft Palate Craniofac J 2024 Dec;61(12):1941-1950. Epub 2023 Jul 28 doi: 10.1177/10556656231190703. PMID: 37501651
Comparative evaluation of 2-point vs 3-point fixation in the treatment of zygomaticomaxillary complex fractures - A systematic review.
Gadkari N, Bawane S, Chopra R, Bhate K, Kulkarni D
J Craniomaxillofac Surg 2019 Oct;47(10):1542-1550. Epub 2019 Jul 19 doi: 10.1016/j.jcms.2019.07.009. PMID: 31395419
Assessment modalities of non-ionizing three-dimensional images for the quantification of facial morphology, symmetry, and appearance in cleft lip and palate: a systematic review.
Thierens LAM, De Roo NMC, De Pauw GAM, Brusselaers N
Int J Oral Maxillofac Surg 2018 Sep;47(9):1095-1105. Epub 2018 Jun 5 doi: 10.1016/j.ijom.2018.05.017. PMID: 29884428
Reconstructive Techniques for the Saddle Nose Deformity in Granulomatosis With Polyangiitis: A Systematic Review.
Ezzat WH, Compton RA, Basa KC, Levi J
JAMA Otolaryngol Head Neck Surg 2017 May 1;143(5):507-512. doi: 10.1001/jamaoto.2016.3484. PMID: 27978568
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M
Sci Rep 2016 Aug 10;6:30610. doi: 10.1038/srep30610. PMID: 27506553Free PMC Article

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