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Abnormality of skull ossification

MedGen UID:
871207
•Concept ID:
C4025686
•
Finding
Synonyms: Abnormality of bone calcification of calvarium; Abnormality of bone calcification of cranium; Abnormality of bone calcification of skull; Abnormality of bone formation of calvarium; Abnormality of bone formation of cranium; Abnormality of bone mineralization of calvarium; Abnormality of bone mineralization of cranium; Abnormality of bone mineralization of skull; Abnormality of ossification of calvarium; Abnormality of ossification of cranium; Abnormality of skull bone formation
 
HPO: HP:0002703

Definition

An abnormality of the process of ossification of the skull. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of skull ossification

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
Reprint of-Differential diagnosis: Trepanation.
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Controversies in the diagnosis and management of the Robin sequence.
Mackay DR
J Craniofac Surg 2011 Mar;22(2):415-20. doi: 10.1097/SCS.0b013e3182074799. PMID: 21403570

Recent clinical studies

Etiology

Critical elements in tissue engineering of craniofacial malformations.
Gholamalizadeh A, Nazifkerdar S, Safdarian N, Ziaee AE, Mobedi H, Rahbarghazi R, Khanmohammadi M, Saghati S
Regen Med 2023 Jun;18(6):487-504. Epub 2023 May 18 doi: 10.2217/rme-2022-0128. PMID: 37199189
Distraction osteogenesis in craniosynostosis.
Sandhaus H, Johnson MD
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):304-313. doi: 10.1097/MOO.0000000000000724. PMID: 34183561
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
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
A Genetic-Pathophysiological Framework for Craniosynostosis.
Twigg SR, Wilkie AO
Am J Hum Genet 2015 Sep 3;97(3):359-77. doi: 10.1016/j.ajhg.2015.07.006. PMID: 26340332Free PMC Article

Diagnosis

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
Eagle's syndrome.
Egierska D, Perszke M, Kurianowicz I
Pol Merkur Lekarski 2021 Dec 16;49(294):458-460. PMID: 34919094
Pierre Robin Sequence.
Hsieh ST, Woo AS
Clin Plast Surg 2019 Apr;46(2):249-259. Epub 2019 Feb 8 doi: 10.1016/j.cps.2018.11.010. PMID: 30851756
Eagle syndrome: A comprehensive review.
Badhey A, Jategaonkar A, Anglin Kovacs AJ, Kadakia S, De Deyn PP, Ducic Y, Schantz S, Shin E
Clin Neurol Neurosurg 2017 Aug;159:34-38. Epub 2017 May 6 doi: 10.1016/j.clineuro.2017.04.021. PMID: 28527976
Craniofacial Microsomia.
Brandstetter KA, Patel KG
Facial Plast Surg Clin North Am 2016 Nov;24(4):495-515. doi: 10.1016/j.fsc.2016.06.006. PMID: 27712817

Therapy

Delayed Sublingual Edema Following Neonatal Mandibular Distraction Osteogenesis.
Miller EM, Jungbauer WN Jr, Carroll WW, Pecha PP
J Craniofac Surg 2023 Sep 1;34(6):e612-e614. Epub 2023 Jul 27 doi: 10.1097/SCS.0000000000009554. PMID: 37497798
Robin Sequence: Neonatal Mandibular Distraction.
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
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
Complications in Posterior Cranial Vault Distraction.
Greives MR, Ware BW, Tian AG, Taylor JA, Pollack IF, Losee JE
Ann Plast Surg 2016 Feb;76(2):211-5. doi: 10.1097/SAP.0000000000000518. PMID: 25954848
Complications of frontofacial advancement.
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

Prognosis

Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Reprint of-Differential diagnosis: Trepanation.
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Glossoptosis.
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237
The styloid-stylohyoid syndrome.
Gossman JR Jr, Tarsitano JJ
J Oral Surg 1977 Jul;35(7):555-60. PMID: 406372

Clinical prediction guides

Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
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
Reprint of-Differential diagnosis: Trepanation.
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Renal tubular dysgenesis.
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579

Recent systematic reviews

Neurological phenotypes and treatment outcomes in Eagle syndrome: systematic review and meta-analysis.
Hassani M, Grønlund EW, Albrechtsen SS, Kondziella D
PeerJ 2024;12:e17423. Epub 2024 Jun 26 doi: 10.7717/peerj.17423. PMID: 38948209Free PMC Article
An evaluation of mandibular canal variations: a systematic review and meta-analysis.
Asghar A, Priya A, Ravi KS, Iwanaga J, Tubbs RS, Naaz S, Panchal P
Anat Sci Int 2023 Mar;98(2):176-184. Epub 2022 Aug 29 doi: 10.1007/s12565-022-00682-7. PMID: 36038792
Prevalence and features of elongated styloid process on imaging studies: a systematic review and meta-analysis.
Nogueira-Reis F, de Oliveira Reis L, Fontenele RC, Freitas DQ, Tabchoury CPM
Clin Oral Investig 2022 Feb;26(2):1199-1215. Epub 2021 Nov 20 doi: 10.1007/s00784-021-04285-w. PMID: 34800204
Complications of mandibular distraction osteogenesis for developmental deformities: a systematic review of the literature.
Verlinden CR, van de Vijfeijken SE, Tuinzing DB, Jansma EP, Becking AG, Swennen GR
Int J Oral Maxillofac Surg 2015 Jan;44(1):44-9. Epub 2014 Oct 29 doi: 10.1016/j.ijom.2014.09.007. PMID: 25442740
Complications of frontofacial advancement.
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

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