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Abnormal intramembranous ossification

MedGen UID:
866722
•Concept ID:
C4021069
•
Anatomical Abnormality
Synonym: Abnormal intramembranous bone ossification
 
HPO: HP:0012790

Definition

An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal intramembranous ossification

Professional guidelines

PubMed

Potential of human fetal chorionic stem cells for the treatment of osteogenesis imperfecta.
Jones GN, Moschidou D, Abdulrazzak H, Kalirai BS, Vanleene M, Osatis S, Shefelbine SJ, Horwood NJ, Marenzana M, De Coppi P, Bassett JH, Williams GR, Fisk NM, Guillot PV
Stem Cells Dev 2014 Feb 1;23(3):262-76. Epub 2013 Oct 16 doi: 10.1089/scd.2013.0132. PMID: 24028330Free PMC Article
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K
Am J Hum Genet 2002 Oct;71(4):724-38. Epub 2002 Aug 26 doi: 10.1086/342717. PMID: 12196916Free PMC Article

Recent clinical studies

Etiology

Bone structure and composition in a hyperglycemic, obese, and leptin receptor-deficient rat: Microscale characterization of femur and calvarium.
Micheletti C, Jolic M, Grandfield K, Shah FA, Palmquist A
Bone 2023 Jul;172:116747. Epub 2023 Apr 5 doi: 10.1016/j.bone.2023.116747. PMID: 37028238
Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism.
Balkhande PB, Lakkakula BVKS, Chitharanjan AB
Am J Orthod Dentofacial Orthop 2018 Feb;153(2):255-261.e1. doi: 10.1016/j.ajodo.2017.06.023. PMID: 29407503
Histone Deacetylases in Bone Development and Skeletal Disorders.
Bradley EW, Carpio LR, van Wijnen AJ, McGee-Lawrence ME, Westendorf JJ
Physiol Rev 2015 Oct;95(4):1359-81. doi: 10.1152/physrev.00004.2015. PMID: 26378079Free PMC Article
Inherited ossifying diseases.
Job-Deslandre C
Joint Bone Spine 2004 Mar;71(2):98-101. doi: 10.1016/s1297-319x(03)00130-1. PMID: 15116703
Progressive osseous heteroplasia.
Kaplan FS, Shore EM
J Bone Miner Res 2000 Nov;15(11):2084-94. doi: 10.1359/jbmr.2000.15.11.2084. PMID: 11092391

Diagnosis

Isolated sagittal craniosynostosis: definition, classification, and surgical indications.
Massimi L, Caldarelli M, Tamburrini G, Paternoster G, Di Rocco C
Childs Nerv Syst 2012 Sep;28(9):1311-7. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1834-5. PMID: 22872242
Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis.
Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA, White EA, Matcuk GR Jr
Radiographics 2011 Nov-Dec;31(7):1865-82. doi: 10.1148/rg.317115093. PMID: 22084176
Cleidocranial dysplasia.
Zabeen B, Mohsin F, Taher A, Khan M, Azad K, Nahar N
Mymensingh Med J 2008 Jan;17(1):82-4. PMID: 18285740
Molecular determinants of vascular calcification: a bench to bedside view.
Dellegrottaglie S, Sanz J, Rajagopalan S
Curr Mol Med 2006 Aug;6(5):515-24. doi: 10.2174/156652406778018653. PMID: 16918372
Bone development: interaction of molecular components and biophysical forces.
Forriol F, Shapiro F
Clin Orthop Relat Res 2005 Mar;(432):14-33. PMID: 15738800

Therapy

Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype.
Yang XR, Wright JR Jr, Yu W, Langdon KD, Somerset D, Thomas MA
Birth Defects Res 2022 Jan 1;114(1):17-22. Epub 2021 Nov 13 doi: 10.1002/bdr2.1965. PMID: 34773723
Synergistic activity of polarised osteoblasts inside condensations cause their differentiation.
Kaul H, Hall BK, Newby C, Ventikos Y
Sci Rep 2015 Jul 6;5:11838. doi: 10.1038/srep11838. PMID: 26146365Free PMC Article
Improving bony stability in maxillofacial surgery: use of osteogenetic materials in patients with profound (> or =5mm) maxillary advancement, a clinical study.
Kuvat SV, Cizmeci O, Biçer A, Marşan G, Hocaoğlu E, Bilgiç B, Emekli U
J Plast Reconstr Aesthet Surg 2009 May;62(5):639-45. Epub 2008 Mar 28 doi: 10.1016/j.bjps.2007.09.043. PMID: 18375195

Prognosis

Imaging Review of Normal and Abnormal Skeletal Maturation.
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Histone Deacetylases in Bone Development and Skeletal Disorders.
Bradley EW, Carpio LR, van Wijnen AJ, McGee-Lawrence ME, Westendorf JJ
Physiol Rev 2015 Oct;95(4):1359-81. doi: 10.1152/physrev.00004.2015. PMID: 26378079Free PMC Article
Molecular determinants of vascular calcification: a bench to bedside view.
Dellegrottaglie S, Sanz J, Rajagopalan S
Curr Mol Med 2006 Aug;6(5):515-24. doi: 10.2174/156652406778018653. PMID: 16918372
Inherited ossifying diseases.
Job-Deslandre C
Joint Bone Spine 2004 Mar;71(2):98-101. doi: 10.1016/s1297-319x(03)00130-1. PMID: 15116703
Progressive osseous heteroplasia.
Kaplan FS, Shore EM
J Bone Miner Res 2000 Nov;15(11):2084-94. doi: 10.1359/jbmr.2000.15.11.2084. PMID: 11092391

Clinical prediction guides

Bone structure and composition in a hyperglycemic, obese, and leptin receptor-deficient rat: Microscale characterization of femur and calvarium.
Micheletti C, Jolic M, Grandfield K, Shah FA, Palmquist A
Bone 2023 Jul;172:116747. Epub 2023 Apr 5 doi: 10.1016/j.bone.2023.116747. PMID: 37028238
Imaging Review of Normal and Abnormal Skeletal Maturation.
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Mandibular Distraction in a Patient With Type II Collagenopathy.
Garza RM, Alyono JC, Dorfman DW, Wan DC
J Craniofac Surg 2017 Nov;28(8):2073-2075. doi: 10.1097/SCS.0000000000002123. PMID: 27152560Free PMC Article
Histone Deacetylases in Bone Development and Skeletal Disorders.
Bradley EW, Carpio LR, van Wijnen AJ, McGee-Lawrence ME, Westendorf JJ
Physiol Rev 2015 Oct;95(4):1359-81. doi: 10.1152/physrev.00004.2015. PMID: 26378079Free PMC Article
Progressive osseous heteroplasia.
Kaplan FS, Shore EM
J Bone Miner Res 2000 Nov;15(11):2084-94. doi: 10.1359/jbmr.2000.15.11.2084. PMID: 11092391

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