Etiology
Cheung MS,
Cole TJ,
Arundel P,
Bridges N,
Burren CP,
Cole T,
Davies JH,
Hagenäs L,
Högler W,
Hulse A,
Mason A,
McDonnell C,
Merker A,
Mohnike K,
Sabir A,
Skae M,
Rothenbuhler A,
Warner J,
Irving M
Am J Med Genet A
2024 Feb;194(2):243-252.
Epub 2023 Oct 9
doi: 10.1002/ajmg.a.63431.
PMID: 37814549
Solomon BD
Am J Med Genet C Semin Med Genet
2018 Dec;178(4):440-446.
doi: 10.1002/ajmg.c.31664.
PMID: 30580478
Chauvin NA,
Jaimes C,
Khwaja A
Semin Musculoskelet Radiol
2018 Feb;22(1):104-117.
Epub 2018 Feb 6
doi: 10.1055/s-0037-1609012.
PMID: 29409077
Baek GH,
Kim J
J Hand Surg Asian Pac Vol
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
PMID: 27595943
Temtamy SA,
Aglan MS
Orphanet J Rare Dis
2008 Jun 13;3:15.
doi: 10.1186/1750-1172-3-15.
PMID: 18554391Free PMC Article
Diagnosis
Holmes LB,
Nasri HZ
Am J Med Genet A
2022 Nov;188(11):3236-3241.
Epub 2022 Sep 8
doi: 10.1002/ajmg.a.62941.
PMID: 36073773
Rutkowski PT,
Samora JB
J Am Acad Orthop Surg
2021 Jul 1;29(13):563-570.
doi: 10.5435/JAAOS-D-20-01133.
PMID: 33826558
Charen DA,
Markowitz JS,
Cheung ZB,
Matijakovich DJ,
Chan JJ,
Vulcano E
Orthopedics
2019 Jan 1;42(1):e138-e143.
Epub 2018 Dec 13
doi: 10.3928/01477447-20181206-06.
PMID: 30540873
Vanlerberghe C,
Boutry N,
Petit F
Clin Genet
2018 Jul;94(1):43-53.
Epub 2018 Apr 11
doi: 10.1111/cge.13209.
PMID: 29322497
Hamdy RC,
Makhdom AM,
Saran N,
Birch J
J Am Acad Orthop Surg
2014 Apr;22(4):246-55.
doi: 10.5435/JAAOS-22-04-246.
PMID: 24668354
Therapy
Meena L,
Gupta R
N Engl J Med
2021 Oct 14;385(16):1510.
Epub 2021 Oct 9
doi: 10.1056/NEJMicm2103503.
PMID: 34623787
Robinson ME,
AlQuorain H,
Murshed M,
Rauch F
Pediatr Nephrol
2020 Oct;35(10):1843-1854.
Epub 2019 Aug 8
doi: 10.1007/s00467-019-04290-y.
PMID: 31392510
Franzone JM,
Shah SA,
Wallace MJ,
Kruse RW
Orthop Clin North Am
2019 Apr;50(2):193-209.
doi: 10.1016/j.ocl.2018.10.003.
PMID: 30850078
Soper JR,
Bonar SF,
O'Sullivan DJ,
McCredie J,
Willert HG
Skeletal Radiol
2019 Apr;48(4):517-525.
Epub 2018 Oct 19
doi: 10.1007/s00256-018-3086-2.
PMID: 30341712Free PMC Article
Lenz W
J Med Genet
1973 Mar;10(1):34-49.
doi: 10.1136/jmg.10.1.34.
PMID: 4354695Free PMC Article
Prognosis
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
Solomon BD
Orphanet J Rare Dis
2011 Aug 16;6:56.
doi: 10.1186/1750-1172-6-56.
PMID: 21846383Free PMC Article
Temtamy SA,
Aglan MS
Orphanet J Rare Dis
2008 Jun 13;3:15.
doi: 10.1186/1750-1172-3-15.
PMID: 18554391Free PMC Article
Bland JH,
Merrit JA,
Boushey DR
Semin Arthritis Rheum
1977 Aug;7(1):21-47.
doi: 10.1016/s0049-0172(77)80003-6.
PMID: 71760
Ogden JA,
Watson HK,
Bohne W
J Bone Joint Surg Am
1976 Jun;58(4):467-75.
PMID: 818089
Clinical prediction guides
Rutkowski PT,
Samora JB
J Am Acad Orthop Surg
2021 Jul 1;29(13):563-570.
doi: 10.5435/JAAOS-D-20-01133.
PMID: 33826558
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
Soper JR,
Bonar SF,
O'Sullivan DJ,
McCredie J,
Willert HG
Skeletal Radiol
2019 Apr;48(4):517-525.
Epub 2018 Oct 19
doi: 10.1007/s00256-018-3086-2.
PMID: 30341712Free PMC Article
Baek GH,
Kim J
J Hand Surg Asian Pac Vol
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
PMID: 27595943
Brancati F,
Sarkozy A,
Dallapiccola B
Orphanet J Rare Dis
2006 Dec 12;1:50.
doi: 10.1186/1750-1172-1-50.
PMID: 17163996Free PMC Article