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歌舞伎综合征中的复发性髌骨脱位

Recurrent dislocation of the patella in kabuki make-up syndrome.

作者信息

Rouffiange Lucie, Dusabe Jean-Paul, Docquier Pierre-Louis

机构信息

Department of Orthopaedic Surgery, Cliniques Universitaires Saint-Luc, 10 Avenue Hippocrate, 1200 Brussels, Belgium.

出版信息

Case Rep Orthop. 2012;2012:501453. doi: 10.1155/2012/501453. Epub 2012 Dec 18.

DOI:10.1155/2012/501453
PMID:23320229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3535732/
Abstract

Two patients with Kabuki make-up syndrome with bilateral recurrent dislocation of the patella are presented. They had generalized ligamentous laxity and patellofemoral dysplasia. Both developed patellar dislocation in adolescence and required surgery, with medial transfer of the tibial tuberosity associated with vastus medialis plasty (Insall technique). One postoperative complication occurred in one case: a nondisplaced tibia fracture at the sixth postoperative week that healed with conservative means. Final results were good in both cases. Good surgical results can be achieved in patellar dislocation in patients with Kabuki syndrome.

摘要

本文报告了两名患有歌舞伎综合征且双侧复发性髌骨脱位的患者。他们存在全身性韧带松弛和髌股发育不良。两人均在青春期出现髌骨脱位并需要手术治疗，采用胫骨结节内侧移位联合股内侧肌成形术（英萨尔技术）。其中一例发生了一种术后并发症：术后第六周出现无移位的胫骨骨折，经保守治疗愈合。两例患者的最终结果均良好。对于歌舞伎综合征患者的髌骨脱位，可取得良好的手术效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/ca6d84a581f0/CRIM.ORTHOPEDICS2012-501453.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/868443994a69/CRIM.ORTHOPEDICS2012-501453.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/50ee7e50006d/CRIM.ORTHOPEDICS2012-501453.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/ca6d84a581f0/CRIM.ORTHOPEDICS2012-501453.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/868443994a69/CRIM.ORTHOPEDICS2012-501453.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/50ee7e50006d/CRIM.ORTHOPEDICS2012-501453.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eab7/3535732/ca6d84a581f0/CRIM.ORTHOPEDICS2012-501453.003.jpg

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本文引用的文献

1
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.外显子组测序鉴定出 MLL2 突变是歌舞伎综合征的一个病因。
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
2
Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients.歌舞伎综合征中髋关节脱位的治疗：2例患者3个髋关节的报告
J Pediatr Orthop. 2007 Jan-Feb;27(1):37-40. doi: 10.1097/BPO.0b013e31802b70cf.
3
Kabuki syndrome presenting with congenital talipes equinovarus.伴有先天性马蹄内翻足的歌舞伎综合征。
J Pediatr Orthop B. 2005 Jul;14(4):285-6. doi: 10.1097/01202412-200507000-00010.
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Kabuki syndrome: a review.歌舞伎综合征：综述
Clin Genet. 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x.
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Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.
Am J Med Genet A. 2005 Jan 30;132A(3):234-43. doi: 10.1002/ajmg.a.30331.
6
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.歌舞伎综合征的非典型表现：20例系列报道中的8例患者及文献复习
Am J Med Genet A. 2004 Aug 15;129A(1):64-8. doi: 10.1002/ajmg.a.30144.
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Kabuki make-up syndrome: a review.
Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020.
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Defective clavicles in Kabuki syndrome.歌舞伎综合征中的锁骨发育不全。
Genet Couns. 2002;13(4):477-9.
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Kabuki syndrome: a review study of three hundred patients.
Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004.
10
Patellar dislocation in Kabuki syndrome.歌舞伎综合征中的髌骨脱位
Am J Med Genet. 2002 Mar 1;108(2):160-3. doi: 10.1002/ajmg.10247.