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Aplasia of facial bones

MedGen UID:: 868106
•Concept ID:: C4022497
•: Anatomical Abnormality

Synonyms:	Absence of facial bones; Agenesis of facial bones; Aplasia of facial skeleton; Failure of development of facial bones; Failure of development of facial skeleton; Missing facial bones

HPO:	HP:0040008

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia of facial bones

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal axial skeleton morphology
    - Abnormal skull morphology
      - Abnormal facial skeleton morphology
        Aplasia/Hypoplasia of facial bones
        Aplasia of facial bones
        Aplasia of the maxilla
        Aplasia of the premaxilla

Professional guidelines

PubMed

The etiology, clinical features, and treatment options of hemifacial microsomia.

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

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).

Society for Maternal-Fetal Medicine (SMFM). Electronic address: [email protected], Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Mesiodens--diagnosis and management of a common supernumerary tooth.

Russell KA, Folwarczna MA
J Can Dent Assoc 2003 Jun;69(6):362-6. PMID: 12787472

See all (276)

Recent clinical studies

Etiology

Non-surgical treatment of transverse deficiency in adults using Microimplant-assisted Rapid Palatal Expansion (MARPE).

Brunetto DP, Sant'Anna EF, Machado AW, Moon W
Dental Press J Orthod 2017 Feb;22(1):110-125. doi: 10.1590/2177-6709.22.1.110-125.sar. PMID: 28444019 Free PMC Article

Maxillary sinus aplasia.

Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417

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

Rare craniofacial clefts.

Moore MH
J Craniofac Surg 1996 Nov;7(6):408-11. doi: 10.1097/00001665-199611000-00003. PMID: 10332258

Craniofrontonasal dysplasia.

Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

See all (3202)

Diagnosis

Nervous system involvement in Pfeiffer syndrome.

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874

Craniofacial distraction osteogenesis.

Winters R, Tatum SA
Facial Plast Surg Clin North Am 2014 Nov;22(4):653-64. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.003. PMID: 25444735

Maxillary sinus aplasia.

Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417

Neuro-osteology.

Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Craniofrontonasal dysplasia.

Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

See all (2645)

Therapy

Evaluation of surgical techniques in survival rate and complications of zygomatic implants for the rehabilitation of the atrophic edentulous maxilla: a systematic review.

Kämmerer PW, Fan S, Aparicio C, Bedrossian E, Davó R, Morton D, Raghoebar GM, Zarrine S, Al-Nawas B
Int J Implant Dent 2023 May 17;9(1):11. doi: 10.1186/s40729-023-00478-y. PMID: 37198345 Free PMC Article

Orthognathic Surgery for Patients with Cleft Lip and Palate.

Roy AA, Rtshiladze MA, Stevens K, Phillips J
Clin Plast Surg 2019 Apr;46(2):157-171. Epub 2019 Feb 6 doi: 10.1016/j.cps.2018.11.002. PMID: 30851748

MOC-PS(SM) CME article: genioplasty.

Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-7. doi: 10.1097/01.prs.0000305931.98111.c3. PMID: 18379385

Nasolabial aesthetics.

Mitchell C, Oeltjen J, Panthaki Z, Thaller SR
J Craniofac Surg 2007 Jul;18(4):756-65. doi: 10.1097/scs.0b013e3180684360. PMID: 17667661

Alloplastic cheek augmentation.

Mladick RA
Clin Plast Surg 1991 Jan;18(1):29-38. PMID: 2015748

See all (981)

Prognosis

Nervous system involvement in Pfeiffer syndrome.

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874

Pyriform aperture enlargement in all aspects.

Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296

Maxillary sinus aplasia.

Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417

Neuro-osteology.

Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Craniofrontonasal dysplasia.

Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

See all (1825)

Clinical prediction guides

Clinical analysis of nonsyndromic oligodontia phenotypes.

Shu L, Tang Z, Wang H, Cao L, Li H
Hua Xi Kou Qiang Yi Xue Za Zhi 2024 Feb 1;42(1):89-96. doi: 10.7518/hxkq.2024.2023203. PMID: 38475956 Free PMC Article

Distraction Osteogenesis: Mandible and Maxilla.

Dibbs RP, Ferry AM, Sarrami SM, Abu-Ghname A, Dempsey RF, Buchanan EP
Facial Plast Surg 2021 Dec;37(6):751-758. Epub 2021 May 3 doi: 10.1055/s-0041-1727248. PMID: 33940653

Nervous system involvement in Pfeiffer syndrome.

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874

Craniofrontonasal dysplasia.

Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Hemimandibular hyperplasia--hemimandibular elongation.

Obwegeser HL, Makek MS
J Maxillofac Surg 1986 Aug;14(4):183-208. doi: 10.1016/s0301-0503(86)80290-9. PMID: 3461097

See all (1654)

Recent systematic reviews

Evaluation of surgical techniques in survival rate and complications of zygomatic implants for the rehabilitation of the atrophic edentulous maxilla: a systematic review.

Kueper J, Tsimbal C, Olsen BR, Kaban L, Liao EC
Int J Oral Maxillofac Surg 2022 Jan;51(1):54-61. Epub 2021 Apr 30 doi: 10.1016/j.ijom.2021.04.001. PMID: 33941395

Nervous system involvement in Pfeiffer syndrome.

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874

Impacted and transmigrant mandibular canines incidence, aetiology, and treatment: a systematic review.

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

Morphologic and Demographic Predictors of Third Molar Agenesis: A Systematic Review and Meta-analysis.

Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107

See all (49)

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Aplasia of facial bones

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Practice guidelines

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