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Small distal femoral epiphysis

MedGen UID:
868571
Concept ID:
C4022970
Finding
Synonym: Small end part of outermost thighbone
 
HPO: HP:0012283

Definition

Reduced size of the Distal epiphysis of femur. [from HPO]

Term Hierarchy

Conditions with this feature

Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).

Professional guidelines

PubMed

Sparling M, Malleson P, Wood B, Petty R
Arthritis Rheum 1990 Jun;33(6):821-6. doi: 10.1002/art.1780330608. PMID: 2363737

Recent clinical studies

Etiology

DeKeyser GJ, Bailey TL, Higgins TF, Tyser AR
J Orthop Trauma 2022 Feb 1;36(2):e80. doi: 10.1097/BOT.0000000000002186. PMID: 34050083
Epperson RT, Williams DL, Rogers B, Maxwell J, Stevens P
J Orthop Res 2021 Dec;39(12):2653-2662. Epub 2021 Mar 2 doi: 10.1002/jor.25004. PMID: 33580528
Grammens J, Van Haver A, Danckaers F, Booth B, Sijbers J, Verdonk P
Knee Surg Sports Traumatol Arthrosc 2021 Jun;29(6):1777-1789. Epub 2020 Aug 14 doi: 10.1007/s00167-020-06218-8. PMID: 32797248Free PMC Article
Nguyen CV, Farrow LD, Liu RW, Gilmore A
Am J Sports Med 2017 Apr;45(5):1085-1089. Epub 2016 Dec 22 doi: 10.1177/0363546516677795. PMID: 28005409
Shea KG, Styhl AC, Jacobs JC Jr, Ganley TJ, Milewski MD, Cannamela PC, Anderson AF, Polousky JD
Am J Sports Med 2016 Nov;44(11):2833-2837. Epub 2016 Jul 29 doi: 10.1177/0363546516656366. PMID: 27474384

Diagnosis

Epperson RT, Williams DL, Rogers B, Maxwell J, Stevens P
J Orthop Res 2021 Dec;39(12):2653-2662. Epub 2021 Mar 2 doi: 10.1002/jor.25004. PMID: 33580528
Nguyen CV, Farrow LD, Liu RW, Gilmore A
Am J Sports Med 2017 Apr;45(5):1085-1089. Epub 2016 Dec 22 doi: 10.1177/0363546516677795. PMID: 28005409
Ogawa E, Kojima-Ishii K, Fujiwara I
J Pediatr 2008 Jul;153(1):101-4. Epub 2008 Feb 8 doi: 10.1016/j.jpeds.2007.12.015. PMID: 18571545
Kwee TC, Beemer FA, Beek FJ, Nievelstein RA
Pediatr Radiol 2006 Jan;36(1):8-15. Epub 2005 Oct 25 doi: 10.1007/s00247-005-0011-3. PMID: 16249889
Sailhan F, Chotel F, Guibal AL, Gollogly S, Adam P, Bérard J, Guibaud L
Eur Radiol 2004 Sep;14(9):1600-8. Epub 2004 Apr 3 doi: 10.1007/s00330-004-2319-z. PMID: 15064854

Therapy

Nedopil AJ, Hernandez AM, Boone JM, Howell SM, Hull ML
Knee 2023 Jun;42:193-199. Epub 2023 Apr 11 doi: 10.1016/j.knee.2023.01.013. PMID: 37054496
Ni S, Li X, Yi X
J Healthc Eng 2022;2022:7069348. Epub 2022 Mar 28 doi: 10.1155/2022/7069348. PMID: 35388316Free PMC Article
Sakamoto A, Okamoto T, Matsuda S
Clin Orthop Surg 2018 Jun;10(2):253-259. Epub 2018 May 18 doi: 10.4055/cios.2018.10.2.253. PMID: 29854351Free PMC Article
Aponte-Tinao L, Ayerza MA, Muscolo DL, Farfalli GL
Clin Orthop Relat Res 2015 May;473(5):1789-96. Epub 2014 Oct 29 doi: 10.1007/s11999-014-4028-5. PMID: 25352262Free PMC Article
Sharma R, Anand R, Chandra J, Seth A, Pemde H, Singh V
Pediatr Blood Cancer 2013 Dec;60(12):1957-62. Epub 2013 Aug 13 doi: 10.1002/pbc.24678. PMID: 23940095

Prognosis

Pepe G, Calafiore M, Valenzise M, Corica D, Morabito L, Pajno GB, Aversa T, Wasniewska M
Front Endocrinol (Lausanne) 2020;11:147. Epub 2020 Mar 24 doi: 10.3389/fendo.2020.00147. PMID: 32265840Free PMC Article
Archibald HD, Petro KF, Liu RW
J Pediatr Orthop 2019 Jan;39(1):e50-e53. doi: 10.1097/BPO.0000000000001070. PMID: 28945686
Frotzler A, Berger M, Knecht H, Eser P
Bone 2008 Sep;43(3):549-55. Epub 2008 May 16 doi: 10.1016/j.bone.2008.05.006. PMID: 18567554
Saifuddin A, Whelan J, Pringle JA, Cannon SR
Skeletal Radiol 2000 Nov;29(11):646-51. doi: 10.1007/s002560000277. PMID: 11201034
Hughston JC, Hergenroeder PT, Courtenay BG
J Bone Joint Surg Am 1984 Dec;66(9):1340-8. PMID: 6501330

Clinical prediction guides

Wang J, Du Z, Yang R, Tang X, Yan T, Guo W
J Orthop Sci 2022 Jan;27(1):235-241. Epub 2021 Jan 5 doi: 10.1016/j.jos.2020.12.009. PMID: 33419623
Urbanschitz L, Agten CA, Bühler MM, Wetzel MS, Müller DA
Skeletal Radiol 2021 Apr;50(4):811-819. Epub 2020 Sep 11 doi: 10.1007/s00256-020-03595-6. PMID: 32918112
Archibald HD, Petro KF, Liu RW
J Pediatr Orthop 2019 Jan;39(1):e50-e53. doi: 10.1097/BPO.0000000000001070. PMID: 28945686
Takeuchi A, Yamamoto N, Hayashi K, Matsubara H, Kimura H, Miwa S, Higuchi T, Abe K, Taniguchi Y, Tsuchiya H
BMC Musculoskelet Disord 2018 Jun 6;19(1):185. doi: 10.1186/s12891-018-2109-4. PMID: 29875014Free PMC Article
Kampschulte M, Krombach GA, Richards DC, Sender J, Lips KS, Thormann U, El Khassawna T, Ray S, Alt V, Langheinrich AC
Microvasc Res 2016 May;105:7-14. Epub 2015 Oct 30 doi: 10.1016/j.mvr.2015.10.005. PMID: 26522284

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