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Abnormal femoral epiphysis morphology

MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
Synonyms: Abnormality of femoral epiphysis; Abnormality of thighbone end part
 
HPO: HP:0006499

Definition

An anomaly of a growth plate of a femur. [from HPO]

Conditions with this feature

Stickler syndrome type 1
MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).

Professional guidelines

PubMed

Hickman JM, Peters CL
Am J Orthop (Belle Mead NJ) 2001 Jun;30(6):459-67. PMID: 11411872
Schedel H, Wicht L, Mäurer J, Zellner A, Felix R
Bildgebung 1994 Mar;61(1):20-4. PMID: 8193512
Bryant DD 3rd, Epps CH Jr
Orthopedics 1991 Jul;14(7):775-84. doi: 10.3928/0147-7447-19910701-08. PMID: 1871029

Recent clinical studies

Etiology

Duffy P, Ecklund K
Pediatr Radiol 2023 Nov;53(12):2400-2410. Epub 2023 Sep 29 doi: 10.1007/s00247-023-05772-w. PMID: 37770576
Mitchell C, Emami K, Emami A, Hosseinzadeh S, Shore B, Novais EN, Kiapour AM
Arch Orthop Trauma Surg 2023 Sep;143(9):5457-5466. Epub 2023 Mar 1 doi: 10.1007/s00402-023-04795-0. PMID: 36856839
Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY
Radiographics 2019 May-Jun;39(3):779-794. doi: 10.1148/rg.2019180101. PMID: 31059403
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article

Diagnosis

Morancie NA, Helton MR
Am Fam Physician 2023 May;107(5):474-485. PMID: 37192073
Acosta AM, Steinman SE, White KK
J Am Acad Orthop Surg 2019 Dec 1;27(23):e1021-e1028. doi: 10.5435/JAAOS-D-17-00796. PMID: 31567543
Peterson HA, Shaughnessy WJ, Stans AA
J Pediatr Orthop B 2017 Nov;26(6):507-514. doi: 10.1097/BPB.0000000000000384. PMID: 27748675
Gill KG
Semin Musculoskelet Radiol 2013 Jul;17(3):328-38. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348099. PMID: 23787987
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article

Therapy

Pettit M, Doran C, Singh Y, Saito M, Sunil Kumar KH, Khanduja V
Osteoarthritis Cartilage 2021 Aug;29(8):1117-1129. Epub 2021 May 11 doi: 10.1016/j.joca.2021.02.572. PMID: 33989785
Bayomy AF, Bompadre V, Schmale GA
Arthroscopy 2019 Mar;35(3):940-949. Epub 2019 Feb 4 doi: 10.1016/j.arthro.2018.10.132. PMID: 30733028
Roberts DW, Saglam Y, De La Rocha A, Frasquillo BN, Tulchin-Francis K, Kim HKW
J Pediatr Orthop 2018 Apr;38(4):193-201. doi: 10.1097/BPO.0000000000000782. PMID: 27261966
Nepple JJ, Vigdorchik JM, Clohisy JC
Am J Sports Med 2015 Nov;43(11):2833-40. Epub 2015 Jan 13 doi: 10.1177/0363546514563909. PMID: 25587186
McCullough CJ
Br J Rheumatol 1994 Feb;33(2):178-83. doi: 10.1093/rheumatology/33.2.178. PMID: 8162488

Prognosis

Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Gökkuş K, Atmaca H, Sagtas E, Saylik M, Aydin AT
J Pediatr Orthop B 2017 Nov;26(6):532-545. doi: 10.1097/BPB.0000000000000269. PMID: 27082230
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article
Gholve PA, Cameron DB, Millis MB
Curr Opin Pediatr 2009 Feb;21(1):39-45. doi: 10.1097/MOP.0b013e328320acea. PMID: 19242240
Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E
J Pediatr Orthop 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25. PMID: 18388709

Clinical prediction guides

Fujii Y, Endo H, Mitani S, Akazawa H, Tetsunaga T, Miyake T, Yamada K, Aoki K, Ozaki T
Acta Med Okayama 2017 Aug;71(4):315-323. doi: 10.18926/AMO/55308. PMID: 28824187
Peterson HA, Shaughnessy WJ, Stans AA
J Pediatr Orthop B 2017 Nov;26(6):507-514. doi: 10.1097/BPB.0000000000000384. PMID: 27748675
Sangeux M, Passmore E, Gomez G, Balakumar J, Graham HK
Clin Biomech (Bristol, Avon) 2014 May;29(5):523-30. Epub 2014 Apr 12 doi: 10.1016/j.clinbiomech.2014.03.012. PMID: 24768225
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article
Powers JA, Bach PJ
South Med J 1977 Nov;70(11):1297-9. doi: 10.1097/00007611-197711000-00014. PMID: 918696

Recent systematic reviews

Pettit M, Doran C, Singh Y, Saito M, Sunil Kumar KH, Khanduja V
Osteoarthritis Cartilage 2021 Aug;29(8):1117-1129. Epub 2021 May 11 doi: 10.1016/j.joca.2021.02.572. PMID: 33989785
Nepple JJ, Vigdorchik JM, Clohisy JC
Am J Sports Med 2015 Nov;43(11):2833-40. Epub 2015 Jan 13 doi: 10.1177/0363546514563909. PMID: 25587186
Hogervorst T, Eilander W, Fikkers JT, Meulenbelt I
Clin Orthop Relat Res 2012 Dec;470(12):3284-96. doi: 10.1007/s11999-012-2511-4. PMID: 22926490Free PMC Article
Struijs PA, Kerkhoffs GM, Besselaar PP
J Foot Ankle Surg 2012 Sep-Oct;51(5):620-6. Epub 2012 Jul 21 doi: 10.1053/j.jfas.2012.05.008. PMID: 22819617

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