ISSN 2146-8370
 

Case Report 


The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman.

Abstract
Kabuki make-up syndrome (KS) or Niikawa-Kuroki syndrome is a rare autosomal dominant disorder with an incidence of 1 per 30,000-40,000 that is characterized by multiple congenital abnormalities. The diagnosis is based on the clinical findings. Pathogenic variants in the MLL2 gene have been identified as the most common cause of KS. Our patient underwent right knee surgery for patellar subluxation. At surgery, the patellar tendon was removed from its attachment on the tibial tuberosity, medialized, and anchored. The patellar retinaculum was loosened and medial plication was performed (the Insall technique). Postoperatively, the patient was treated in our rehabilitation clinic. KS is a rare syndrome and surgery for patellar subluxation can be very important to obtain clinical improvement. The rehabilitation program should be continued postoperatively.

Key words: Kabuki syndrome, patellar subluxation, surgery


 
ARTICLE TOOLS
Abstract
PDF Fulltext
Print this article Print this Article
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Ismail Boyraz
Articles by Bunyamin Koc
Articles by Ozgur Aldemir
Articles by Hakan Sarman
on Google
on Google Scholar
Article Statistics
 Viewed: 1447
Downloaded: 424
Cited: 0

REFERENCES
1. Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, et al. Kabuki syndrome: Clinical and molecular diagnosis in the first year of life. Arch Dis Child 2015;100:158-64. [DOI via Crossref]    [Pubmed]   
2. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42:790-3. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
3. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2005;67:209-19. [DOI via Crossref]    [Pubmed]   
4. Ramachandran M, Kay RM, Skaggs DL. Treatment of hip dislocation in Kabuki syndrome: A report of three hips in two patients. J Pediatr Orthop 2007;27:37-40. [DOI via Crossref]    [Pubmed]   
5. Rouffiange L, Dusabe JP, Docquier PL. Recurrent dislocation of the patella in kabuki make-up syndrome. Case Rep Orthop 2012;2012:501453. [DOI via Crossref]   
6. Kawame H, Hannibal MC, Hudgins L, Pagon RA. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999;134:480-5. [DOI via Crossref]   
7. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981;99:570-3. [DOI via Crossref]   
8. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 1988;31:565-89. [DOI via Crossref]    [Pubmed]   
9. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki makeup syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981;99:565-9. [DOI via Crossref]   
10. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005 30;132A:234-43. [DOI via Crossref]    [Pubmed]   
11. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ Kabuki syndrome: A review study of three hundred patients. Clin Dysmorphol 2002;11:95-102. [DOI via Crossref]   
12. Hinrichs B, Gramss B, Meinecke P. Defective clavicles in Kabuki syndrome. Genet Couns 2002;13:477-9. [Pubmed]   
13. Phillips S, Hemmady S, Thomas P, ODoherty D. Kabuki syndrome presenting with congenital talipes equinovarus. J Pediatr Orthop B 2005;14:285-6. [DOI via Crossref]    [Pubmed]   
14. Burke LW, Jones MC. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 1995;32:77-84. [DOI via Crossref]   
15. Ikegawa S, Sakaguchi R, Kimizuka M, Yanagisako Y, Tokimura F. Recurrent dislocation of the patella in Kabuki make-up syndrome. J Pediatr Orthop 1993;13:265-7. [Pubmed]   
16. Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. Patellar dislocation in Kabuki syndrome. Am J Med Genet 2002;108:160-3. [DOI via Crossref]    [Pubmed]   
17. Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, et al. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004;129A:64-8. [DOI via Crossref]    [Pubmed]   
18. Matsumoto N, Niikawa N. Kabuki make-up syndrome: A review. Am J Med Genet 2003;117:57-65. [DOI via Crossref]    [Pubmed]   

How to Cite this Article
Pubmed Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Prog Orthop Sci. 2015; 1(1): 31-33. doi:10.5455/pos.20150508050717


Web Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. http://www.porthosci.com/?mno=182917 [Access: December 13, 2018]. doi:10.5455/pos.20150508050717


AMA (American Medical Association) Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Prog Orthop Sci. 2015; 1(1): 31-33. doi:10.5455/pos.20150508050717



Vancouver/ICMJE Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Prog Orthop Sci. (2015), [cited December 13, 2018]; 1(1): 31-33. doi:10.5455/pos.20150508050717



Harvard Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman (2015) The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Prog Orthop Sci, 1 (1), 31-33. doi:10.5455/pos.20150508050717



Turabian Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. 2015. The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Progress in Orthopedic Science, 1 (1), 31-33. doi:10.5455/pos.20150508050717



Chicago Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. "The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome." Progress in Orthopedic Science 1 (2015), 31-33. doi:10.5455/pos.20150508050717



MLA (The Modern Language Association) Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman. "The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome." Progress in Orthopedic Science 1.1 (2015), 31-33. Print. doi:10.5455/pos.20150508050717



APA (American Psychological Association) Style

Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman (2015) The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome. Progress in Orthopedic Science, 1 (1), 31-33. doi:10.5455/pos.20150508050717





Most Viewed Articles
  • Conservative treatment of lateral epicondylitis: The impact of psychosocial factors on perceived treatment efficacy
    Thomas Isaac Sherman, Kayvon Reza Golshani, Kevin Emmerich, Ling Cai, Weiling Gu, Michael Kessler
    Prog Orthop Sci. 2015; 1(1): 1-8
    » Abstract & References » doi: 10.5455/pos.20150601113733

  • Sterno-Clavicular Joint Reconstruction Technique
    Michael Ting, Nicholas Kusnezov, John Dunn
    Prog Orthop Sci. 2015; 1(1): 24-26
    » Abstract & References » doi: 10.5455/pos.20150426105952

  • The use of mesenchymal stem cells (MSCs) for cartilage regeneration in knee osteoarthritis
    E. Carlos RODRIGUEZ-MERCHAN
    Prog Orthop Sci. 2015; 1(1): 27-30
    » Abstract & References » doi: 10.5455/pos.20150413025729

  • Fractures through a biphalangeal toe: a pitfall to avoid
    Leanne L Seeger, Warren Chang, Benjamin D Levine, Benjamin Plotkin, Kambiz Motamedi
    Prog Orthop Sci. 2015; 1(1): 9-10
    » Abstract & References » doi: 10.5455/pos.20150519104244

  • THE FUNCTIONAL MOVEMENT SCREENING TOOL DOES NOT PREDICT INJURY IN FOOTBALL
    Christopher Rusling, Kimberley L Edwards, Archan Bhattacharya, Adam Reed, Stuart Irwin, Andrew Boles, Alex Potts, Lisa Hodgson
    Prog Orthop Sci. 2015; 1(2): 41-46
    » Abstract & References » doi: 10.5455/pos.20150803113054

  • The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome
    Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman
    Prog Orthop Sci. 2015; 1(1): 31-33
    » Abstract & References » doi: 10.5455/pos.20150508050717

  • Minimally Invasive Technique for Curettage of Benign Bone Tumors using Endoscopic Technique
    Costantino Errani, Mohammadreza Chehrassan, Davide Maria Donati,Cesare Faldini.
    Prog Orthop Sci. 2015; 1(1): 15-18
    » Abstract & References » doi: 10.5455/pos.20150512040320

  • Health-related quality of life in twins with clubfoot
    Vilhelm Engell, Frank Damborg, Mikkel Andersen , Kirsten Kyvik , Karsten Thomsen , Søren Overgaard
    Prog Orthop Sci. 2015; 1(1): 11-14
    » Abstract & References » doi: 10.5455/pos.20150503010430

  • Audit of Orthopaedic trauma theatre usage : Observation from Nizwa regional referral Hospital
    DINESH DHAR
    Prog Orthop Sci. 2015; 1(1): 37-40
    » Abstract & References » doi: 10.5455/pos.20150402065140

  • "Traumatic bilateral anterior glenohumeral dislocation .Should unsupervised training at local gym be allowed?"
    Hayat Ahmad Khan, Younis Kamal, Mohammad Ashraf Khan, Naseemul Gani, Munir Farooq, Adnan Zahoor
    Prog Orthop Sci. 2015; 1(1): 34-36
    » Abstract & References » doi: 10.5455/pos.20150519104717

  • Most Downloaded
  • Muscle herniation of the extremities: Two case report
    Oktay Belhan, Tevfik Yetis, Murat Gurger, Mehmet Kaya
    Prog Orthop Sci. 2016; 2(1): 4-7
    » Abstract & References » doi: 10.5455/pos.20160226123558

  • Conservative treatment of lateral epicondylitis: The impact of psychosocial factors on perceived treatment efficacy
    Thomas Isaac Sherman, Kayvon Reza Golshani, Kevin Emmerich, Ling Cai, Weiling Gu, Michael Kessler
    Prog Orthop Sci. 2015; 1(1): 1-8
    » Abstract & References » doi: 10.5455/pos.20150601113733

  • THE FUNCTIONAL MOVEMENT SCREENING TOOL DOES NOT PREDICT INJURY IN FOOTBALL
    Christopher Rusling, Kimberley L Edwards, Archan Bhattacharya, Adam Reed, Stuart Irwin, Andrew Boles, Alex Potts, Lisa Hodgson
    Prog Orthop Sci. 2015; 1(2): 41-46
    » Abstract & References » doi: 10.5455/pos.20150803113054

  • The use of mesenchymal stem cells (MSCs) for cartilage regeneration in knee osteoarthritis
    E. Carlos RODRIGUEZ-MERCHAN
    Prog Orthop Sci. 2015; 1(1): 27-30
    » Abstract & References » doi: 10.5455/pos.20150413025729

  • TOTAL HIP REPLACEMENT IN THE ACUTE MANAGEMENT OF ACETABULAR FRACTURES
    Giriraj Harshavardhan J.K., Ganesan Ram Ganesan, Jambu Nageswaran, Vijayaraghavan Phagal varthi
    Prog Orthop Sci. 2015; 1(2): 54-58
    » Abstract & References » doi: 10.5455/pos.20150920021932

  • Sterno-Clavicular Joint Reconstruction Technique
    Michael Ting, Nicholas Kusnezov, John Dunn
    Prog Orthop Sci. 2015; 1(1): 24-26
    » Abstract & References » doi: 10.5455/pos.20150426105952

  • Audit of Orthopaedic trauma theatre usage : Observation from Nizwa regional referral Hospital
    DINESH DHAR
    Prog Orthop Sci. 2015; 1(1): 37-40
    » Abstract & References » doi: 10.5455/pos.20150402065140

  • Fractures through a biphalangeal toe: a pitfall to avoid
    Leanne L Seeger, Warren Chang, Benjamin D Levine, Benjamin Plotkin, Kambiz Motamedi
    Prog Orthop Sci. 2015; 1(1): 9-10
    » Abstract & References » doi: 10.5455/pos.20150519104244

  • LIPOMA OF THE RING FINGER IN A YOUNG FEMALE: CASE REPORT AND REVIEW OF LITERATURE
    Mohit Kumar Arora,Ela Madaan
    Prog Orthop Sci. 2016; 2(4): 37-39
    » Abstract & References » doi: 10.5455/pos.20161026022814

  • The Surgical Treatment of Patellar Subluxation in a Case of Kabuki Make-Up Syndrome
    Ismail Boyraz, Bunyamin Koc, Ozgur Aldemir, Hakan Sarman
    Prog Orthop Sci. 2015; 1(1): 31-33
    » Abstract & References » doi: 10.5455/pos.20150508050717

  • Most Cited Articles
  • THE FUNCTIONAL MOVEMENT SCREENING TOOL DOES NOT PREDICT INJURY IN FOOTBALL
    Christopher Rusling, Kimberley L Edwards, Archan Bhattacharya, Adam Reed, Stuart Irwin, Andrew Boles, Alex Potts, Lisa Hodgson
    Prog Orthop Sci. 2015; 1(2): 41-46
    » Abstract & References » doi: 10.5455/pos.20150803113054
    Cited : 4 times [Click to see citing articles]

  • Sterno-Clavicular Joint Reconstruction Technique
    Michael Ting, Nicholas Kusnezov, John Dunn
    Prog Orthop Sci. 2015; 1(1): 24-26
    » Abstract & References » doi: 10.5455/pos.20150426105952
    Cited : 1 time [Click to see citing article]

  • Conservative treatment of lateral epicondylitis: The impact of psychosocial factors on perceived treatment efficacy
    Thomas Isaac Sherman, Kayvon Reza Golshani, Kevin Emmerich, Ling Cai, Weiling Gu, Michael Kessler
    Prog Orthop Sci. 2015; 1(1): 1-8
    » Abstract & References » doi: 10.5455/pos.20150601113733
    Cited : 1 time [Click to see citing article]

  • TOTAL HIP REPLACEMENT IN THE ACUTE MANAGEMENT OF ACETABULAR FRACTURES
    Giriraj Harshavardhan J.K., Ganesan Ram Ganesan, Jambu Nageswaran, Vijayaraghavan Phagal varthi
    Prog Orthop Sci. 2015; 1(2): 54-58
    » Abstract & References » doi: 10.5455/pos.20150920021932
    Cited : 1 time [Click to see citing article]

  • Periarticular Liposomal Bupivicaine Injection Decreases Length of Stay, Pain Scores, and Opioid Usage After Total Knee Arthroplasty When Compared to Femoral Nerve Block
    Xander Parisky, Brian Gilmer, Jennifer Harkins, Michael Karch
    Prog Orthop Sci. 2017; 3(1): 1-4
    » Abstract » doi: 10.5455/pos.20170131055031
    Cited : 1 time [Click to see citing article]