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Distal femoral metaphyseal irregularity

MedGen UID:
1371099
•Concept ID:
C4477052
•
Anatomical Abnormality
Synonym: Irregular distal femoral metaphyses
 
HPO: HP:0045079

Definition

Irregularity of the normally smooth surface of the distal metaphysis of the femur. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal femoral metaphyseal irregularity

Recent clinical studies

Etiology

UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y
Eur J Med Genet 2020 Nov;63(11):104021. Epub 2020 Aug 2 doi: 10.1016/j.ejmg.2020.104021. PMID: 32755715
Imaging Findings of Metabolic Bone Disease.
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
Hypophosphatasia. Review of 24 cases.
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecka W
Pediatr Radiol 1976 Dec 15;5(2):103-17. doi: 10.1007/BF00975316. PMID: 1012798

Diagnosis

An innovative strategy to treat large metaphyseal segmental femoral bone defect using customized design and 3D printed micro-porous prosthesis: a prospective clinical study.
Hou G, Liu B, Tian Y, Liu Z, Zhou F, Ji H, Zhang Z, Guo Y, Lv Y, Yang Z, Wen P, Zheng Y, Cheng Y
J Mater Sci Mater Med 2020 Jul 21;31(8):66. doi: 10.1007/s10856-020-06406-5. PMID: 32696168
Autosomal dominant brachyolmia: transient metaphyseal striations.
Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Imaging Findings of Metabolic Bone Disease.
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
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
Maroteaux P, Verloes A, Stanescu V, Stanescu R
Am J Med Genet 1991 Apr 1;39(1):4-10. doi: 10.1002/ajmg.1320390103. PMID: 1867263
Hypophosphatasia. Review of 24 cases.
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecka W
Pediatr Radiol 1976 Dec 15;5(2):103-17. doi: 10.1007/BF00975316. PMID: 1012798

Therapy

An innovative strategy to treat large metaphyseal segmental femoral bone defect using customized design and 3D printed micro-porous prosthesis: a prospective clinical study.
Hou G, Liu B, Tian Y, Liu Z, Zhou F, Ji H, Zhang Z, Guo Y, Lv Y, Yang Z, Wen P, Zheng Y, Cheng Y
J Mater Sci Mater Med 2020 Jul 21;31(8):66. doi: 10.1007/s10856-020-06406-5. PMID: 32696168
Distal ulnar changes in children with thalassemia and deferiprone related arthropathy.
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
MR imaging of deferoxamine-induced bone dysplasia in an 8-year-old female with thalassemia major.
Miller TT, Caldwell G, Kaye JJ, Arkin S, Burke S, Brill PW
Pediatr Radiol 1993;23(7):523-4. doi: 10.1007/BF02012138. PMID: 8309753

Prognosis

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
Maroteaux P, Verloes A, Stanescu V, Stanescu R
Am J Med Genet 1991 Apr 1;39(1):4-10. doi: 10.1002/ajmg.1320390103. PMID: 1867263

Clinical prediction guides

An innovative strategy to treat large metaphyseal segmental femoral bone defect using customized design and 3D printed micro-porous prosthesis: a prospective clinical study.
Hou G, Liu B, Tian Y, Liu Z, Zhou F, Ji H, Zhang Z, Guo Y, Lv Y, Yang Z, Wen P, Zheng Y, Cheng Y
J Mater Sci Mater Med 2020 Jul 21;31(8):66. doi: 10.1007/s10856-020-06406-5. PMID: 32696168
Autosomal dominant brachyolmia: transient metaphyseal striations.
Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Imaging Findings of Metabolic Bone Disease.
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
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
Maroteaux P, Verloes A, Stanescu V, Stanescu R
Am J Med Genet 1991 Apr 1;39(1):4-10. doi: 10.1002/ajmg.1320390103. PMID: 1867263

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