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Wide femoral metaphysis

MedGen UID:
355309
Concept ID:
C1864854
Anatomical Abnormality; Finding
Synonym: Broad femoral metaphyses
 
HPO: HP:0006417

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWide femoral metaphysis

Conditions with this feature

Camptodactyly-tall stature-scoliosis-hearing loss syndrome
MedGen UID:
355844
Concept ID:
C1864852
Disease or Syndrome
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

Recent clinical studies

Etiology

Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
Yoon JY, Park CW, Park YS, Yoo JJ, Kim HJ
Clin Orthop Surg 2020 Dec;12(4):435-441. Epub 2020 Nov 18 doi: 10.4055/cios20044. PMID: 33274019Free PMC Article
Stulberg SD, Patel RM
Bone Joint J 2013 Nov;95-B(11 Suppl A):57-62. doi: 10.1302/0301-620X.95B11.32936. PMID: 24187354
Patel RM, Lo WM, Cayo MA, Dolan MM, Stulberg SD
Orthopedics 2013 Mar;36(3):e301-7. doi: 10.3928/01477447-20130222-18. PMID: 23464949
Oestreich AE, Ahmad BS
Skeletal Radiol 1992;21(5):283-6. doi: 10.1007/BF00241764. PMID: 1502578

Diagnosis

Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
Han SM, Wu Y, Wen JX, Wu TH, Sun T, Yu BH, Wu WJ, Gao BL
Curr Med Imaging 2022;18(14):1453-1461. doi: 10.2174/1573405618666211222160039. PMID: 34951370
Schmitz MR, Blumberg TJ, Nelson SE, Sees JP, Sankar WN
J Pediatr Orthop 2018 Jul;38(6):e300-e304. doi: 10.1097/BPO.0000000000001166. PMID: 29554020
Aizawa T, Okada K, Abe E, Tsuchida S, Shimada Y, Itoi E
Skeletal Radiol 2004 Jan;33(1):41-5. Epub 2003 Nov 20 doi: 10.1007/s00256-003-0717-y. PMID: 14628102
Park YK, Unni KK, Kim YW, Han CS, Yang MH, Wenger DE, Sim FH, Lucas DR, Ryan JR, Nadim YA, Nojima T, Fletcher CD
Histopathology 1999 Nov;35(5):411-7. doi: 10.1046/j.1365-2559.1999.035005411.x. PMID: 10583555

Therapy

de Leissegues T, Viste A, Fessy MH
Orthop Traumatol Surg Res 2024 Apr;110(2):103786. Epub 2023 Dec 7 doi: 10.1016/j.otsr.2023.103786. PMID: 38070731
Gamble JG, Ziino C, Imrie MN, Young JL
J Pediatr Orthop 2019 Jan;39(1):e28-e31. doi: 10.1097/BPO.0000000000001280. PMID: 30379707
Lewis VO, Gebhardt MC, Springfield DS
J Bone Joint Surg Am 2000 Aug;82(8):1083-8. doi: 10.2106/00004623-200008000-00003. PMID: 10954096
Robertson DD, Mintzer CM, Weissman BN, Ewald FC, LeBoff M, Spector M
J Bone Joint Surg Am 1994 Jan;76(1):66-76. doi: 10.2106/00004623-199401000-00009. PMID: 8288667

Prognosis

de Leissegues T, Viste A, Fessy MH
Orthop Traumatol Surg Res 2024 Apr;110(2):103786. Epub 2023 Dec 7 doi: 10.1016/j.otsr.2023.103786. PMID: 38070731
Han SM, Wu Y, Wen JX, Wu TH, Sun T, Yu BH, Wu WJ, Gao BL
Curr Med Imaging 2022;18(14):1453-1461. doi: 10.2174/1573405618666211222160039. PMID: 34951370
Yoon JY, Park CW, Park YS, Yoo JJ, Kim HJ
Clin Orthop Surg 2020 Dec;12(4):435-441. Epub 2020 Nov 18 doi: 10.4055/cios20044. PMID: 33274019Free PMC Article
Stulberg SD, Patel RM
Bone Joint J 2013 Nov;95-B(11 Suppl A):57-62. doi: 10.1302/0301-620X.95B11.32936. PMID: 24187354
Laine HJ, Lehto MU, Moilanen T
J Arthroplasty 2000 Jan;15(1):86-92. doi: 10.1016/s0883-5403(00)91311-1. PMID: 10654468

Clinical prediction guides

Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
Yoon JY, Park CW, Park YS, Yoo JJ, Kim HJ
Clin Orthop Surg 2020 Dec;12(4):435-441. Epub 2020 Nov 18 doi: 10.4055/cios20044. PMID: 33274019Free PMC Article
Hakozaki M, Kawakami R, Sasaki N, Toshiki N, Kaneuchi Y, Yamada H, Konno S
In Vivo 2020 Nov-Dec;34(6):3495-3501. doi: 10.21873/invivo.12190. PMID: 33144459Free PMC Article
Patel RM, Lo WM, Cayo MA, Dolan MM, Stulberg SD
Orthopedics 2013 Mar;36(3):e301-7. doi: 10.3928/01477447-20130222-18. PMID: 23464949
Laine HJ, Lehto MU, Moilanen T
J Arthroplasty 2000 Jan;15(1):86-92. doi: 10.1016/s0883-5403(00)91311-1. PMID: 10654468

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