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Fragmented epiphyses

MedGen UID:
867862
Concept ID:
C4022253
Anatomical Abnormality
Synonym: Fragmented end part of bone
 
HPO: HP:0100168

Definition

Fragmented appearance of the epiphyses. [from HPO]

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

Tordjman D, Hinds RM, Yang SS, Capo JT
Tech Hand Up Extrem Surg 2018 Mar;22(1):19-25. doi: 10.1097/BTH.0000000000000179. PMID: 29462074
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
Cahill B
Clin Sports Med 1985 Apr;4(2):367-84. PMID: 3886172

Recent clinical studies

Etiology

Wang C, Zhu Y, Long H, Lin Z, Zhao R, Sun B, Zhao S, Cheng L
J Orthop Surg Res 2021 Sep 3;16(1):545. doi: 10.1186/s13018-021-02691-0. PMID: 34479569Free PMC Article
Lee E, Padgett B
Altern Ther Health Med 2021 Jul;27(4):8-13. PMID: 34324435
Danger F, Wasyliw C, Varich L
Semin Musculoskelet Radiol 2018 Feb;22(1):118-124. Epub 2018 Feb 6 doi: 10.1055/s-0038-1627094. PMID: 29409078
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
Atanda A Jr, Shah SA, O'Brien K
Am Fam Physician 2011 Feb 1;83(3):285-91. PMID: 21302869

Diagnosis

Saoud C, Wakely PE Jr, Pantanowitz L, Siddiqui MT, Ali SZ
Acta Cytol 2023;67(4):413-424. Epub 2023 Jan 4 doi: 10.1159/000528932. PMID: 36599325
Danger F, Wasyliw C, Varich L
Semin Musculoskelet Radiol 2018 Feb;22(1):118-124. Epub 2018 Feb 6 doi: 10.1055/s-0038-1627094. PMID: 29409078
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
Schoenecker PL
Orthop Rev 1986 Sep;15(9):561-74. PMID: 3331009

Therapy

Johnstone TM, Baird DW Jr, Cuellar-Montes A, van Deursen WH, Tompkins M, Ganley TJ, Yen YM, Ellis HB, Chan CK, Green DW, Sherman SL, Shea KG
Am J Sports Med 2023 Aug;51(10):2589-2595. Epub 2023 Jun 29 doi: 10.1177/03635465231181059. PMID: 37382335
Demirel M, Polat G, Erşen A, Aşık M, Kılıçoğlu Öİ
Acta Orthop Traumatol Turc 2021 May;55(3):201-207. doi: 10.5152/j.aott.2021.19307. PMID: 34100359Free PMC Article
Huten D, Pasquier G, Lambotte JC
Orthop Traumatol Surg Res 2021 Feb;107(1S):102776. Epub 2020 Dec 13 doi: 10.1016/j.otsr.2020.102776. PMID: 33321231
Levy-Shraga Y, Modan-Moses D, Wientroub S, Ovadia D, Zeitlin L
Eur J Med Genet 2020 Apr;63(4):103830. Epub 2019 Dec 26 doi: 10.1016/j.ejmg.2019.103830. PMID: 31884116
Cheung CS, Zhu Z, Lui JC, Dimitrov D, Baron J
Pharm Res 2015 Jul;32(7):2439-49. Epub 2015 Feb 19 doi: 10.1007/s11095-015-1636-z. PMID: 25690340Free 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
Danger F, Wasyliw C, Varich L
Semin Musculoskelet Radiol 2018 Feb;22(1):118-124. Epub 2018 Feb 6 doi: 10.1055/s-0038-1627094. PMID: 29409078
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
Robertson W, Kelly BT, Green DW
Curr Opin Pediatr 2003 Feb;15(1):38-44. doi: 10.1097/00008480-200302000-00007. PMID: 12544270
Schoenecker PL
Orthop Rev 1986 Sep;15(9):561-74. PMID: 3331009

Clinical prediction guides

Kingery MT, Lowe DT, Egol KA
J Orthop Trauma 2022 Aug 1;36(Suppl 3):S7-S8. doi: 10.1097/BOT.0000000000002385. PMID: 35838564
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
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
Tharakan SJ, Lee RJ, White AM, Lawrence JT
Orthopedics 2016 Jul 1;39(4):e764-7. Epub 2016 May 9 doi: 10.3928/01477447-20160503-01. PMID: 27158824
Khosla S, Melton LJ 3rd, Riggs BL
Calcif Tissue Int 2001 Oct;69(4):189-92. doi: 10.1007/s00223-001-1044-8. PMID: 11730247

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