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Cortical thickening of long bone diaphyses

MedGen UID:
870679
Concept ID:
C4025133
Anatomical Abnormality
HPO: HP:0005791

Definition

Abnormal thickening of the cortex of the diaphyseal region of long bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCortical thickening of long bone diaphyses

Conditions with this feature

Diaphyseal dysplasia
MedGen UID:
4268
Concept ID:
C0011989
Finding
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Osteosclerosis with ichthyosis and fractures
MedGen UID:
331568
Concept ID:
C1833697
Disease or Syndrome

Professional guidelines

Recent clinical studies

Etiology

Gu KD, Ettinger B, Grimsrud CD, Lo JC
Osteoporos Int 2021 Oct;32(10):2119-2123. Epub 2021 Apr 29 doi: 10.1007/s00198-021-05948-w. PMID: 33914104
Boldt JG, Cartillier JC, Machenaud A, Vidalain JP
Surg Technol Int 2015 Nov;27:279-86. PMID: 26680411
Tan SH, Saseendar S, Tan BH, Pawaskar A, Kumar VP
Osteoporos Int 2015 Feb;26(2):421-9. Epub 2014 Sep 17 doi: 10.1007/s00198-014-2885-0. PMID: 25227921
Mohan PC, Howe TS, Koh JS, Png MA
Eur Radiol 2013 Jan;23(1):222-7. Epub 2012 Jul 20 doi: 10.1007/s00330-012-2587-y. PMID: 22814830
Kneissel M, Boyde A, Gasser JA
Bone 2001 Mar;28(3):237-50. doi: 10.1016/s8756-3282(00)00448-8. PMID: 11248653

Diagnosis

Iordache S, Cursaru A, Serban B, Costache M, Spiridonica R, Cretu B, Cirstoiu C
Medicina (Kaunas) 2023 Apr 30;59(5) doi: 10.3390/medicina59050869. PMID: 37241101Free PMC Article
Chen Y, Xie W, Hu F, Chen J, Zheng H, Zhou H, Ni B, Li W, Zhou J
Mol Med Rep 2017 Jan;15(1):235-239. Epub 2016 Dec 12 doi: 10.3892/mmr.2016.6024. PMID: 27959412Free PMC Article
Mohan PC, Howe TS, Koh JS, Png MA
Eur Radiol 2013 Jan;23(1):222-7. Epub 2012 Jul 20 doi: 10.1007/s00330-012-2587-y. PMID: 22814830
Skiadas V, Tyllianakis M, Zolota V, Karantanas A
Am J Orthop (Belle Mead NJ) 2012 Nov;41(11):496-9. PMID: 23431512
Jacobs P
Postgrad Med J 1977 Aug;53(622):497-506. doi: 10.1136/pgmj.53.622.497. PMID: 199895Free PMC Article

Therapy

Iordache S, Cursaru A, Serban B, Costache M, Spiridonica R, Cretu B, Cirstoiu C
Medicina (Kaunas) 2023 Apr 30;59(5) doi: 10.3390/medicina59050869. PMID: 37241101Free PMC Article
Cui L, Li Q, Guan W, Yu W, Li X, Xia W, Jiang Y
Front Endocrinol (Lausanne) 2022;13:882144. Epub 2022 Jun 17 doi: 10.3389/fendo.2022.882144. PMID: 35784539Free PMC Article
Gu KD, Ettinger B, Grimsrud CD, Lo JC
Osteoporos Int 2021 Oct;32(10):2119-2123. Epub 2021 Apr 29 doi: 10.1007/s00198-021-05948-w. PMID: 33914104
Tan SH, Saseendar S, Tan BH, Pawaskar A, Kumar VP
Osteoporos Int 2015 Feb;26(2):421-9. Epub 2014 Sep 17 doi: 10.1007/s00198-014-2885-0. PMID: 25227921
Skiadas V, Tyllianakis M, Zolota V, Karantanas A
Am J Orthop (Belle Mead NJ) 2012 Nov;41(11):496-9. PMID: 23431512

Prognosis

Iordache S, Cursaru A, Serban B, Costache M, Spiridonica R, Cretu B, Cirstoiu C
Medicina (Kaunas) 2023 Apr 30;59(5) doi: 10.3390/medicina59050869. PMID: 37241101Free PMC Article
Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM
Oral Surg Oral Med Oral Pathol Oral Radiol 2016 May;121(5):e123-8. Epub 2016 Jan 28 doi: 10.1016/j.oooo.2016.01.014. PMID: 27068316Free PMC Article
Boldt JG, Cartillier JC, Machenaud A, Vidalain JP
Surg Technol Int 2015 Nov;27:279-86. PMID: 26680411
Roginsky VV, Ivanov AL, Khonsari RH
Int J Oral Maxillofac Surg 2010 Apr;39(4):397-401. Epub 2009 Dec 11 doi: 10.1016/j.ijom.2009.11.008. PMID: 20005074
Schwartz KM, Skinner JA
Skeletal Radiol 2008 Jul;37(7):679-81. Epub 2008 Apr 15 doi: 10.1007/s00256-008-0471-2. PMID: 18414851

Clinical prediction guides

Cui L, Li Q, Guan W, Yu W, Li X, Xia W, Jiang Y
Front Endocrinol (Lausanne) 2022;13:882144. Epub 2022 Jun 17 doi: 10.3389/fendo.2022.882144. PMID: 35784539Free PMC Article
Ari B, Kuyubasi SN
J Pak Med Assoc 2021 May;71(5):1499-1502. doi: 10.47391/JPMA.504. PMID: 34091645
Boldt JG, Cartillier JC, Machenaud A, Vidalain JP
Surg Technol Int 2015 Nov;27:279-86. PMID: 26680411
Puymerail L, Ruff CB, Bondioli L, Widianto H, Trinkaus E, Macchiarelli R
J Hum Evol 2012 Nov;63(5):741-9. Epub 2012 Oct 1 doi: 10.1016/j.jhevol.2012.08.003. PMID: 23036460
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

Recent systematic reviews

Tan SH, Saseendar S, Tan BH, Pawaskar A, Kumar VP
Osteoporos Int 2015 Feb;26(2):421-9. Epub 2014 Sep 17 doi: 10.1007/s00198-014-2885-0. PMID: 25227921

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