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Primary bone dysplasia with multiple joint dislocations

MedGen UID:
1842649
Concept ID:
C5680275
Disease or Syndrome
Synonyms: Primary osteodysplasia with multiple joint dislocations; Primary skeletal dysplasia with multiple joint dislocations
 
Orphanet: ORPHA93441

Recent clinical studies

Etiology

Mortazavi SMJ, Ghadimi E, Ardakani MV, Razzaghof M, Ghasemi MA, Nili A, Vafaei A, Moharrami A, Rasta S
Int Orthop 2022 Apr;46(4):749-759. Epub 2022 Jan 5 doi: 10.1007/s00264-021-05294-w. PMID: 34984499
Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS
J Med Genet 2020 Jul;57(7):454-460. Epub 2020 Jan 27 doi: 10.1136/jmedgenet-2019-106700. PMID: 31988067Free PMC Article
Alassaf N
Eur J Orthop Surg Traumatol 2020 May;30(4):665-670. Epub 2020 Jan 1 doi: 10.1007/s00590-019-02615-z. PMID: 31894353
Tompkins MA, Rohr SR, Agel J, Arendt EA
Knee Surg Sports Traumatol Arthrosc 2018 Mar;26(3):677-684. Epub 2017 Feb 28 doi: 10.1007/s00167-017-4464-3. PMID: 28246877
Engesæter LB, Engesæter IØ, Fenstad AM, Havelin LI, Kärrholm J, Garellick G, Pedersen AB, Overgaard S
Acta Orthop 2012 Oct;83(5):436-41. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736171. PMID: 23043269Free PMC Article

Diagnosis

Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS
J Med Genet 2020 Jul;57(7):454-460. Epub 2020 Jan 27 doi: 10.1136/jmedgenet-2019-106700. PMID: 31988067Free PMC Article
Alassaf N
Eur J Orthop Surg Traumatol 2020 May;30(4):665-670. Epub 2020 Jan 1 doi: 10.1007/s00590-019-02615-z. PMID: 31894353
Tompkins MA, Rohr SR, Agel J, Arendt EA
Knee Surg Sports Traumatol Arthrosc 2018 Mar;26(3):677-684. Epub 2017 Feb 28 doi: 10.1007/s00167-017-4464-3. PMID: 28246877
Engesæter LB, Engesæter IØ, Fenstad AM, Havelin LI, Kärrholm J, Garellick G, Pedersen AB, Overgaard S
Acta Orthop 2012 Oct;83(5):436-41. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736171. PMID: 23043269Free PMC Article

Therapy

Mortazavi SMJ, Ghadimi E, Ardakani MV, Razzaghof M, Ghasemi MA, Nili A, Vafaei A, Moharrami A, Rasta S
Int Orthop 2022 Apr;46(4):749-759. Epub 2022 Jan 5 doi: 10.1007/s00264-021-05294-w. PMID: 34984499
Alassaf N
Eur J Orthop Surg Traumatol 2020 May;30(4):665-670. Epub 2020 Jan 1 doi: 10.1007/s00590-019-02615-z. PMID: 31894353

Prognosis

Mortazavi SMJ, Ghadimi E, Ardakani MV, Razzaghof M, Ghasemi MA, Nili A, Vafaei A, Moharrami A, Rasta S
Int Orthop 2022 Apr;46(4):749-759. Epub 2022 Jan 5 doi: 10.1007/s00264-021-05294-w. PMID: 34984499
Alassaf N
Eur J Orthop Surg Traumatol 2020 May;30(4):665-670. Epub 2020 Jan 1 doi: 10.1007/s00590-019-02615-z. PMID: 31894353
Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
Am J Med Genet A 2019 Sep;179(9):1709-1717. Epub 2019 Jun 27 doi: 10.1002/ajmg.a.61267. PMID: 31250547
Tompkins MA, Rohr SR, Agel J, Arendt EA
Knee Surg Sports Traumatol Arthrosc 2018 Mar;26(3):677-684. Epub 2017 Feb 28 doi: 10.1007/s00167-017-4464-3. PMID: 28246877

Clinical prediction guides

Mortazavi SMJ, Ghadimi E, Ardakani MV, Razzaghof M, Ghasemi MA, Nili A, Vafaei A, Moharrami A, Rasta S
Int Orthop 2022 Apr;46(4):749-759. Epub 2022 Jan 5 doi: 10.1007/s00264-021-05294-w. PMID: 34984499
Alassaf N
Eur J Orthop Surg Traumatol 2020 May;30(4):665-670. Epub 2020 Jan 1 doi: 10.1007/s00590-019-02615-z. PMID: 31894353
Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
Am J Med Genet A 2019 Sep;179(9):1709-1717. Epub 2019 Jun 27 doi: 10.1002/ajmg.a.61267. PMID: 31250547
Tompkins MA, Rohr SR, Agel J, Arendt EA
Knee Surg Sports Traumatol Arthrosc 2018 Mar;26(3):677-684. Epub 2017 Feb 28 doi: 10.1007/s00167-017-4464-3. PMID: 28246877
Ferrone JD Jr
Orthop Clin North Am 1976 Apr;7(2):323-30. PMID: 1264429

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