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Abnormal femur morphology

MedGen UID:
867385
•Concept ID:
C4021750
•
Anatomical Abnormality
Synonym: Abnormality of femur morphology
 
HPO: HP:0002823

Definition

Any anomaly of the structure of the femur. [from HPO]

Recent clinical studies

Etiology

The management of residual acetabular dysplasia: updates and controversies.
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Outcomes after trochleoplasty.
Faruqui S, Bollier M, Wolf B, Amendola N
Iowa Orthop J 2012;32:196-206. PMID: 23576941Free PMC Article
The role of the second trimester genetic sonogram in screening for fetal Down syndrome.
Benacerraf BR
Semin Perinatol 2005 Dec;29(6):386-94. doi: 10.1053/j.semperi.2005.12.003. PMID: 16533652
Knee in congenital short femur.
Sanpera I Jr, Fixsen JA, Sparks LT, Hill RA
J Pediatr Orthop B 1995;4(2):159-63. doi: 10.1097/01202412-199504020-00007. PMID: 7670984
Ultrasonographic screening for the Down syndrome fetus.
Lockwood CJ, Lynch L, Berkowitz RL
Am J Obstet Gynecol 1991 Aug;165(2):349-52. doi: 10.1016/0002-9378(91)90090-e. PMID: 1831322

Diagnosis

Growth Modulation in Achondroplasia.
McClure PK, Kilinc E, Birch JG
J Pediatr Orthop 2017 Sep;37(6):e384-e387. doi: 10.1097/BPO.0000000000001045. PMID: 28719547
Trochlear dysplasia and the role of trochleoplasty.
LaPrade RF, Cram TR, James EW, Rasmussen MT
Clin Sports Med 2014 Jul;33(3):531-45. Epub 2014 May 24 doi: 10.1016/j.csm.2014.03.005. PMID: 24993414
Craniometaphyseal dysplasia.
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045
Giant bone island.
Greenspan A, Klein MJ
Skeletal Radiol 1996 Jan;25(1):67-9. doi: 10.1007/s002560050034. PMID: 8717123
Diagnosis and treatment of congenital deformities of the musculoskeletal system in the newborn and the infant.
Tachdjian MO
Pediatr Clin North Am 1967 May;14(2):307-58. doi: 10.1016/s0031-3955(16)31980-0. PMID: 5337113

Therapy

β-catenin inhibition disrupts the homeostasis of osteogenic/adipogenic differentiation leading to the development of glucocorticoid-induced osteonecrosis of the femoral head.
Xia C, Xu H, Fang L, Chen J, Yuan W, Fu D, Wang X, He B, Xiao L, Wu C, Tong P, Chen D, Wang P, Jin H
Elife 2024 Feb 20;12 doi: 10.7554/eLife.92469. PMID: 38376133Free PMC Article
Steroid-induced osteonecrosis of the femoral head reveals enhanced reactive oxygen species and hyperactive osteoclasts.
Chen K, Liu Y, He J, Pavlos N, Wang C, Kenny J, Yuan J, Zhang Q, Xu J, He W
Int J Biol Sci 2020;16(11):1888-1900. Epub 2020 Apr 6 doi: 10.7150/ijbs.40917. PMID: 32398957Free PMC Article
Postoperative imaging in femoroacetabular impingement.
Dietrich TJ, Dora C, Pfirrmann CW
Semin Musculoskelet Radiol 2013 Jul;17(3):272-8. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348093. PMID: 23787981
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Congenital short femur.
Fock G, Sulamaa M
Acta Orthop Scand 1965;36(3):294-300. doi: 10.3109/17453676508989395. PMID: 5850353

Prognosis

Congenital Tibial Deficiency.
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
The management of residual acetabular dysplasia: updates and controversies.
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
The treatment of femoral head deformity and coxa magna by the Ganz femoral head reduction osteotomy.
Paley D
Orthop Clin North Am 2011 Jul;42(3):389-99, viii. Epub 2011 May 14 doi: 10.1016/j.ocl.2011.04.006. PMID: 21742151
Ultrasonographic screening for the Down syndrome fetus.
Lockwood CJ, Lynch L, Berkowitz RL
Am J Obstet Gynecol 1991 Aug;165(2):349-52. doi: 10.1016/0002-9378(91)90090-e. PMID: 1831322
Kyphomelic dysplasia.
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME
J Med Genet 1989 Jul;26(7):457-61. doi: 10.1136/jmg.26.7.457. PMID: 2746619Free PMC Article

Clinical prediction guides

Congenital Tibial Deficiency.
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Outcomes after trochleoplasty.
Faruqui S, Bollier M, Wolf B, Amendola N
Iowa Orthop J 2012;32:196-206. PMID: 23576941Free PMC Article
Craniometaphyseal dysplasia.
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045
Torsional deformity.
Staheli LT
Pediatr Clin North Am 1986 Dec;33(6):1373-83. doi: 10.1016/s0031-3955(16)36148-x. PMID: 3786004
Coxa magna.
Powers JA, Bach PJ
South Med J 1977 Nov;70(11):1297-9. doi: 10.1097/00007611-197711000-00014. PMID: 918696

Recent systematic reviews

Research progress in the pathogenesis of hormone-induced femoral head necrosis based on microvessels: a systematic review.
Ma T, Wang Y, Ma J, Cui H, Feng X, Ma X
J Orthop Surg Res 2024 Apr 26;19(1):265. doi: 10.1186/s13018-024-04748-2. PMID: 38671500Free PMC Article
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M
Am J Med Genet A 2021 Jan;185(1):73-82. Epub 2020 Oct 14 doi: 10.1002/ajmg.a.61912. PMID: 33051983
Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
D'Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, Pizzuti A, Benedetti Panici P, Giancotti A
Acta Obstet Gynecol Scand 2019 Jan;98(1):11-17. Epub 2018 Oct 31 doi: 10.1111/aogs.13470. PMID: 30252939
The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients.
Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article
Hip ontogenesis: how evolution, genes, and load history shape hip morphotype and cartilotype.
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

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