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Stickler syndrome associated with slipped capital femoral epiphysis

  • Tomonori BabaEmail author
  • Katsuo Shitoto
Case Report
  • 93 Downloads

Abstract

We report a case of Stickler syndrome associated with slipped capital femoral epiphysis. A 10-year-old male subsequently developed left thigh pain without any provoking cause. Three days after, when he swung a bat, marked left hip pain developed. Radiograph showed a slipped capital femoral epiphysis. At the age of 1 year, he underwent surgery due to cleft palate. The visual acuity was bilaterally decreased, and a diagnosis of bilateral retinal/vitreous degeneration had been made. Radiograph on the normal side showed coxa valga. According to clinical symptoms and past history, diagnosis of Stickler syndrome associated with slipped capital femoral epiphysis was made. On the day of the first visit, surgery was performed for slipped capital femoral epiphysis. No intentional reduction was performed. After gentle protective traction, in situ fixation was performed with 6.5 mm cannulated cancellous screw. After 5-month nonweight-bearing, weight-bearing was initiated, and full-weight bearing was achieved after 1 month. MRI 6 months after the operation showed no bone necrosis, and lateral radiography confirmed bone union.

Keywords

Stickler syndrome Slipped capital femoral epiphysis Arthro-ophthalmopathy In situ fixation 

Notes

Conflict of interest statement

No funds were received in support of this study.

References

  1. 1.
    Stickler GB, Belau PG, Farrell FJ et al (1965) Hereditary progressive arthro-ophthalmopathy. Mayo Clinic Proc 40:433–455Google Scholar
  2. 2.
    Rose PS, Ahn NU, Levy HP et al (2001) The hip in stickler syndrome. J Pediatric Orthop 21:657–663CrossRefGoogle Scholar
  3. 3.
    Pyeritz RE, Mckusick VA (1979) The marfan syndrome: diagnosis and management. N Engl J Med 300:772–777PubMedGoogle Scholar
  4. 4.
    Lorder RT, Aronsson DD, Dobbs MB et al (2000) Slipped capital femoral epyphysis. J Bone Joint Surg (Am) 82:1170–1186CrossRefGoogle Scholar
  5. 5.
    Noguchi Y, Sakamaki T (2002) Epidemiology and demographics of slipped capital femoral epiphysis in Japan: a multicenter study by the Japanese Pediatric Orthopaedic Association. J Orthop Sci 7:610–617CrossRefPubMedGoogle Scholar
  6. 6.
    Bennett JT, McMurrat SW (1990) Stickler syndrome. J Pediatric Orthop 10:760–763Google Scholar
  7. 7.
    Ahmad NN, McDonald-McGinn DM, Zackai EH et al (1993) A second mutation in the type II procollagen gene (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 52:39–45PubMedGoogle Scholar
  8. 8.
    Francomano CA, Liberfarb RM, Hirose T et al (1987) The stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 17:293–296CrossRefGoogle Scholar
  9. 9.
    Vikkula M, Mariman EC, Lui VC et al (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80:431–437CrossRefPubMedGoogle Scholar
  10. 10.
    Majava M, Hoornaert KP, Bartholdi D et al (2007) A report on 10 new patients with heterozygous mutations in the COLL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet 143:258–264CrossRefPubMedGoogle Scholar
  11. 11.
    Aronsson DD, Loder RT, Breur GJ et al (2006) Slipped capital femoral epiphysis: current concepts. J Am Acad Ortop Surg 14:666–679Google Scholar
  12. 12.
    Loder RT, Aronsson DD, Weinstein SL et al (2008) Slipped capital femoral epiphysis. Instr Course Lect 57:473–498PubMedGoogle Scholar
  13. 13.
    Weinstein SL (2000) Long-term follow-up of pediatric orthopaedic conditions. J Bone and Joint Surg (Am) 82:980–990Google Scholar

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of Orthopedic SurgeryJuntendo University Urayasu HospitalUyayasusiJapan

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