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Fragmented, irregular epiphyses

MedGen UID:
357293
Concept ID:
C1867494
Finding
Synonym: Fragmented, irregular end part of bone
 
HPO: HP:0005063

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFragmented, irregular epiphyses

Conditions with this feature

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

Professional guidelines

PubMed

Maruyama M, Takahara M, Satake H
J Orthop Sci 2018 Mar;23(2):213-219. Epub 2017 Dec 22 doi: 10.1016/j.jos.2017.11.013. PMID: 29276039
Satake H, Takahara M, Harada M, Maruyama M
Clin Orthop Relat Res 2013 Apr;471(4):1137-43. doi: 10.1007/s11999-012-2462-9. PMID: 22773394Free PMC Article

Recent clinical studies

Etiology

Sugi MT, Tileston K, Krygier JE, Gamble J
J Pediatr Orthop 2018 Nov/Dec;38(10):e593-e596. doi: 10.1097/BPO.0000000000001246. PMID: 30199459
Maruyama M, Takahara M, Satake H
J Orthop Sci 2018 Mar;23(2):213-219. Epub 2017 Dec 22 doi: 10.1016/j.jos.2017.11.013. PMID: 29276039
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Satake H, Takahara M, Harada M, Maruyama M
Clin Orthop Relat Res 2013 Apr;471(4):1137-43. doi: 10.1007/s11999-012-2462-9. PMID: 22773394Free PMC Article
Abaci A, Taşcilar ME, Ugurel MS, Yesilkaya E, Coskun ZÜ, Yildiz C
Endocr Pract 2010 Jul-Aug;16(4):646-9. doi: 10.4158/EP09306.CR. PMID: 20150025

Diagnosis

Sugi MT, Tileston K, Krygier JE, Gamble J
J Pediatr Orthop 2018 Nov/Dec;38(10):e593-e596. doi: 10.1097/BPO.0000000000001246. PMID: 30199459
Maruyama M, Takahara M, Satake H
J Orthop Sci 2018 Mar;23(2):213-219. Epub 2017 Dec 22 doi: 10.1016/j.jos.2017.11.013. PMID: 29276039
Muratoğlu Şahin N, Bilici ME, Kurnaz E, Pala Akdoğan M, Ceylaner S, Aycan Z
J Pediatr Endocrinol Metab 2017 Aug 28;30(8):889-892. doi: 10.1515/jpem-2016-0315. PMID: 28742517
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Douira-Khomsi W, Louati H, Mormech Y, Saied W, Bouchoucha S, Smida M, Ben Ghachem M, Hammou A, Bellagha I
Foot Ankle Surg 2011 Mar;17(1):37-43. Epub 2009 Apr 2 doi: 10.1016/j.fas.2009.02.003. PMID: 21276564

Therapy

Lui TH
BMJ Case Rep 2015 Feb 26;2015 doi: 10.1136/bcr-2014-206909. PMID: 25721826Free PMC Article

Prognosis

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
Maruyama M, Takahara M, Satake H
J Orthop Sci 2018 Mar;23(2):213-219. Epub 2017 Dec 22 doi: 10.1016/j.jos.2017.11.013. PMID: 29276039
Satake H, Takahara M, Harada M, Maruyama M
Clin Orthop Relat Res 2013 Apr;471(4):1137-43. doi: 10.1007/s11999-012-2462-9. PMID: 22773394Free PMC Article
Chang CH, Yang WE, Kao HK, Shih CH, Kuo KN
J Pediatr Orthop 2011 Apr-May;31(3):240-5. doi: 10.1097/BPO.0b013e31820fc895. PMID: 21415681
Goldman AB, Davidson D, Pavlov H, Bullough PG
Radiology 1980 Aug;136(2):351-8. doi: 10.1148/radiology.136.2.7403509. PMID: 7403509

Clinical prediction guides

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
Cummaudo M, Cappella A, Biraghi M, Raffone C, Màrquez-Grant N, Cattaneo C
Int J Legal Med 2018 Sep;132(5):1493-1503. Epub 2018 Jan 20 doi: 10.1007/s00414-018-1781-0. PMID: 29352750
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Satake H, Takahara M, Harada M, Maruyama M
Clin Orthop Relat Res 2013 Apr;471(4):1137-43. doi: 10.1007/s11999-012-2462-9. PMID: 22773394Free PMC Article
Smithson SF, Grier D, Hall CM
Clin Dysmorphol 2009 Jan;18(1):31-35. doi: 10.1097/MCD.0b013e3283189762. PMID: 19050402

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