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Enlargement of the distal femoral epiphysis

MedGen UID:
334682
Concept ID:
C1843105
Finding
Synonym: Large distal femoral epiphyses
 
HPO: HP:0006438

Definition

An abnormal enlargement of the distal epiphysis of the femur. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnlargement of the distal femoral epiphysis

Conditions with this feature

Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).

Recent clinical studies

Etiology

Smoak JB, Macfarlane A, Kluczynski MA, Ferrick MR, Doak JP, Bisson LJ, Marzo JM
Skeletal Radiol 2020 Jun;49(6):861-868. Epub 2019 Dec 17 doi: 10.1007/s00256-019-03361-3. PMID: 31848655
Voss SD, Glade-Bender J, Spunt SL, DuBois SG, Widemann BC, Park JR, Leary SE, Nelson MD, Adamson PC, Blaney SM, Weigel B
Pediatr Blood Cancer 2015 Jan;62(1):45-51. Epub 2014 Sep 24 doi: 10.1002/pbc.25229. PMID: 25257751Free PMC Article
Davies TG, Stock JT
Am J Hum Biol 2014 Nov-Dec;26(6):822-35. Epub 2014 Aug 28 doi: 10.1002/ajhb.22606. PMID: 25163696
Ho-Fung V, Jaimes C, Delgado J, Davidson RS, Jaramillo D
Pediatr Radiol 2013 Oct;43(10):1316-26. Epub 2013 Apr 25 doi: 10.1007/s00247-013-2686-1. PMID: 23615630
Mahony BS, Bowie JD, Killam AP, Kay HH, Cooper C
Radiology 1986 May;159(2):521-4. doi: 10.1148/radiology.159.2.3515425. PMID: 3515425

Diagnosis

Ho-Fung V, Jaimes C, Delgado J, Davidson RS, Jaramillo D
Pediatr Radiol 2013 Oct;43(10):1316-26. Epub 2013 Apr 25 doi: 10.1007/s00247-013-2686-1. PMID: 23615630
Carbonell PG, Fernández PD, Vicente-Franqueira JR
J Magn Reson Imaging 2005 Oct;22(4):572-6. doi: 10.1002/jmri.20414. PMID: 16161079
Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586
Lachman RS, Rimoin DL, Spranger J
Pediatr Radiol 1988;18(2):93-102. doi: 10.1007/BF02387549. PMID: 3281118

Therapy

Voss SD, Glade-Bender J, Spunt SL, DuBois SG, Widemann BC, Park JR, Leary SE, Nelson MD, Adamson PC, Blaney SM, Weigel B
Pediatr Blood Cancer 2015 Jan;62(1):45-51. Epub 2014 Sep 24 doi: 10.1002/pbc.25229. PMID: 25257751Free PMC Article

Prognosis

Borowski A, Bajelidze G, Bowen JR
Orthopedics 2018 Jul 1;41(4):e574-e579. Epub 2017 Dec 19 doi: 10.3928/01477447-20171213-07. PMID: 29257190
Akaike G, Ueno T, Matsumoto S, Motoi N, Matsueda K
Skeletal Radiol 2016 Apr;45(4):567-73. Epub 2015 Nov 20 doi: 10.1007/s00256-015-2276-4. PMID: 26585568
Voss SD, Glade-Bender J, Spunt SL, DuBois SG, Widemann BC, Park JR, Leary SE, Nelson MD, Adamson PC, Blaney SM, Weigel B
Pediatr Blood Cancer 2015 Jan;62(1):45-51. Epub 2014 Sep 24 doi: 10.1002/pbc.25229. PMID: 25257751Free PMC Article
Preuschoft H, Tardieu C
Folia Primatol (Basel) 1996;66(1-4):82-92. doi: 10.1159/000157187. PMID: 8953752
Mahony BS, Bowie JD, Killam AP, Kay HH, Cooper C
Radiology 1986 May;159(2):521-4. doi: 10.1148/radiology.159.2.3515425. PMID: 3515425

Clinical prediction guides

Smoak JB, Macfarlane A, Kluczynski MA, Ferrick MR, Doak JP, Bisson LJ, Marzo JM
Skeletal Radiol 2020 Jun;49(6):861-868. Epub 2019 Dec 17 doi: 10.1007/s00256-019-03361-3. PMID: 31848655
Borowski A, Bajelidze G, Bowen JR
Orthopedics 2018 Jul 1;41(4):e574-e579. Epub 2017 Dec 19 doi: 10.3928/01477447-20171213-07. PMID: 29257190
Davies TG, Stock JT
Am J Hum Biol 2014 Nov-Dec;26(6):822-35. Epub 2014 Aug 28 doi: 10.1002/ajhb.22606. PMID: 25163696
Weise M, De-Levi S, Barnes KM, Gafni RI, Abad V, Baron J
Proc Natl Acad Sci U S A 2001 Jun 5;98(12):6871-6. Epub 2001 May 29 doi: 10.1073/pnas.121180498. PMID: 11381135Free PMC Article
Mahony BS, Bowie JD, Killam AP, Kay HH, Cooper C
Radiology 1986 May;159(2):521-4. doi: 10.1148/radiology.159.2.3515425. PMID: 3515425

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