Etiology
El-Lababidi N,
Zikánová M,
Baxová A,
Nosková L,
Leiská A,
Lambert L,
Honzík T,
Zeman J
Prague Med Rep
2020;121(3):153-162.
doi: 10.14712/23362936.2020.14.
PMID: 33030144
Muensterer OJ,
Berdon WE,
Lachman RS,
Done SL
Pediatr Radiol
2012 Apr;42(4):475-80.
Epub 2012 Mar 18
doi: 10.1007/s00247-012-2364-8.
PMID: 22426567
Kennedy J,
Jackson G,
Ramsden S,
Taylor J,
Newman W,
Wright MJ,
Donnai D,
Elles R,
Briggs MD
Eur J Hum Genet
2005 May;13(5):547-55.
doi: 10.1038/sj.ejhg.5201374.
PMID: 15756302Free PMC Article
McKeand J,
Rotta J,
Hecht JT
Am J Med Genet
1996 May 17;63(2):406-10.
doi: 10.1002/(SICI)1096-8628(19960517)63:2<406::AID-AJMG16>3.0.CO;2-O.
PMID: 8725795
Horton WA,
Hall JG,
Scott CI,
Pyeritz RE,
Rimoin DL
Am J Dis Child
1982 Apr;136(4):316-9.
doi: 10.1001/archpedi.1982.03970400034010.
PMID: 6803579
Diagnosis
Matsumoto H,
Hori T,
Mori M,
Sasai H,
Ohnishi H
Pediatr Int
2024 Jan-Dec;66(1):e15799.
doi: 10.1111/ped.15799.
PMID: 39087399
Kennedy J,
Jackson G,
Ramsden S,
Taylor J,
Newman W,
Wright MJ,
Donnai D,
Elles R,
Briggs MD
Eur J Hum Genet
2005 May;13(5):547-55.
doi: 10.1038/sj.ejhg.5201374.
PMID: 15756302Free PMC Article
Briggs MD,
Chapman KL
Hum Mutat
2002 May;19(5):465-78.
doi: 10.1002/humu.10066.
PMID: 11968079
Unger S,
Hecht JT
Am J Med Genet
2001 Winter;106(4):244-50.
PMID: 11891674
Khungar A,
Mahajan P,
Gupte G,
Vasundhara M,
Kher A,
Bharucha BA
J Postgrad Med
1993 Apr-Jun;39(2):91-3.
PMID: 8169872
Therapy
Guo BB,
Jin JY,
Yuan ZZ,
Zeng L,
Xiang R
Biomed Res Int
2021;2021:6678531.
Epub 2021 Mar 8
doi: 10.1155/2021/6678531.
PMID: 33748277Free PMC Article
Raggio CL,
Yonko EA,
Khan SI,
Carter EM,
Citron KP,
Bostrom MPG,
Figgie MP
J Arthroplasty
2020 Aug;35(8):1993-2001.
Epub 2020 Apr 9
doi: 10.1016/j.arth.2020.04.007.
PMID: 32386881
Pesenti S,
Iobst CA,
Launay F
Orthop Traumatol Surg Res
2017 Sep;103(5):761-764.
Epub 2017 Apr 17
doi: 10.1016/j.otsr.2017.03.015.
PMID: 28428035
Wilczynska M,
Ching T
BMJ Case Rep
2011 Oct 11;2011
doi: 10.1136/bcr.08.2011.4667.
PMID: 22675014Free PMC Article
Kanazawa H,
Tanaka H,
Inoue M,
Yamanaka Y,
Namba N,
Seino Y
J Bone Miner Metab
2003;21(5):307-10.
doi: 10.1007/s00774-003-0425-7.
PMID: 12928832
Prognosis
Posey KL,
Coustry F,
Hecht JT
Matrix Biol
2018 Oct;71-72:161-173.
Epub 2018 Mar 9
doi: 10.1016/j.matbio.2018.02.023.
PMID: 29530484Free PMC Article
Oh KJ,
Yoon JR,
Yang JH
Knee
2013 Jan;20(1):45-8.
Epub 2012 Nov 22
doi: 10.1016/j.knee.2012.10.012.
PMID: 23177661
Posey KL,
Hecht JT
Curr Drug Targets
2008 Oct;9(10):869-77.
doi: 10.2174/138945008785909293.
PMID: 18855621
Sasaki T,
Yagi T,
Monji J,
Yasuda K,
Kanno Y
J Pediatr Orthop
1986 Jan-Feb;6(1):61-5.
PMID: 3941183
Stanescu V,
Stanescu R,
Maroteaux P
J Bone Joint Surg Am
1984 Jul;66(6):817-36.
doi: 10.2106/00004623-198466060-00002.
PMID: 6376516
Clinical prediction guides
Andrzejewski A,
Péjin Z,
Finidori G,
Badina A,
Glorion C,
Wicart P
J Pediatr Orthop
2021 Feb 1;41(2):e135-e140.
doi: 10.1097/BPO.0000000000001708.
PMID: 33165262
Tariq M,
Khan TN,
Lundin L,
Jameel M,
Lönnerholm T,
Baig SM,
Dahl N,
Klar J
Clin Genet
2018 Jan;93(1):182-186.
Epub 2017 Nov 21
doi: 10.1111/cge.13091.
PMID: 28685811
Posey KL,
Veerisetty AC,
Liu P,
Wang HR,
Poindexter BJ,
Bick R,
Alcorn JL,
Hecht JT
Am J Pathol
2009 Oct;175(4):1555-63.
Epub 2009 Sep 17
doi: 10.2353/ajpath.2009.090184.
PMID: 19762713Free PMC Article
Hecht JT,
Francomano CA,
Briggs MD,
Deere M,
Conner B,
Horton WA,
Warman M,
Cohn DH,
Blanton SH
Genomics
1993 Dec;18(3):661-6.
doi: 10.1016/s0888-7543(05)80370-2.
PMID: 8307577
Stöss H,
Pesch HJ,
Spranger J
Prog Clin Biol Res
1982;104:379-83.
PMID: 7163282