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Year 2013, Volume: 5 Issue: 3, 51 - 54, 01.12.2013

Abstract

Larsen syndrome is a rare genetic disorder, with an incidence of 1/100,000. Joint hypermobility, congenital joint dislocations, spinal deformity and distinctive facial features are characteristic findings in the newborns. Congenital orthopedics pathology is rare with this syndrome. Herein we present a case with Larsen syndrome and discuss it with a brief review of the literature

References

  • Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics 2006;44(2):89–98.
  • Harris R, Cullen CH. Autosomal dominant inheritance in Larsen’s syndrome. Clin Genet 1971;2:87-90.
  • Steel HH, Kohl EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen syndrome) in three siblings. Am J Bone Jt Surg 1972;54(1):75-81.
  • Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genet 2004;36:405-10.
  • Larsen LJ, Schottstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J. Pediat 1950;37(4):574-81.
  • Latta RJ, Graham CB, Aase JM, et al. Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 1971;78(2):291-8.
  • Kaya R, Türkmenoğlu O, Çavuşoğlu H, et al. Cervical Pedicle Screw Fixation in a Patient with Larsen Syndrome: A Case Report. Turkish Neurosurgery 2006;16(1):48-52.
  • Campbell RM. Spine Deformities in Rare Congenital Syndromes. Spine 2009;34(17):1815-27.
  • Hosoe H, Miyamoto K, Wada E, et al. Surgical Treatment of Scoliosis in Larsen Syndrome With Bilateral Hip Dislocation. Spine 2006;31(10):302-6.
  • NORD Guide to Rare Diseases. Philadelphia, PA: Lippincott Williams and Wilkins, 2003.
  • Steveson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen’s syndrome. Anaesthesiology 1991;75(1):142–4.
  • Liang CD, Hang CL. Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome. Pediatr Cardiol. 2001;22(3):245–6.
  • Bayhan G, Yalınkaya A, Yayla M, et al. Larsen Sendromu. Perinatoloji Dergisi 1999;7(4):332–4.
  • Banks JT, Wellons JC, Tubbs RS, et al. Cervical Spine Involvement in Larsen’s Syndrome: A Case Illustration. Pediatrics 2003;111(1):199-201.
  • Johnston CE, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen’s syndrome. J Bone Joint Surg Am 1996;78(4):538–45.
  • Sponseller PD. The spine in skeletal dysplasias. In: Weinstein SL, Ed. The Pediatric Spine, Principles and Practice, Second Edition. Philadelphia: Lippincott Williams &Wilkins, 2001:295–6.

Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu

Year 2013, Volume: 5 Issue: 3, 51 - 54, 01.12.2013

Abstract

Larsen Sendromu 100.000 de bir görülen nadir bir genetik hastalıktır. Yenidoğan döneminde karakteristik olarak eklem hipermobilitesi, konjenital eklem dislokasyonları, spinal deformite ve belirleyici yüz görünümü mevcuttur. Bu sendroma az görülen konjenital ortopedik patolojiler eşlik eder. Bu çalışmada Larsen sendromlu bir olguyu literatür eşliğinde tartışarak sunmaktayız

References

  • Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics 2006;44(2):89–98.
  • Harris R, Cullen CH. Autosomal dominant inheritance in Larsen’s syndrome. Clin Genet 1971;2:87-90.
  • Steel HH, Kohl EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen syndrome) in three siblings. Am J Bone Jt Surg 1972;54(1):75-81.
  • Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genet 2004;36:405-10.
  • Larsen LJ, Schottstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J. Pediat 1950;37(4):574-81.
  • Latta RJ, Graham CB, Aase JM, et al. Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 1971;78(2):291-8.
  • Kaya R, Türkmenoğlu O, Çavuşoğlu H, et al. Cervical Pedicle Screw Fixation in a Patient with Larsen Syndrome: A Case Report. Turkish Neurosurgery 2006;16(1):48-52.
  • Campbell RM. Spine Deformities in Rare Congenital Syndromes. Spine 2009;34(17):1815-27.
  • Hosoe H, Miyamoto K, Wada E, et al. Surgical Treatment of Scoliosis in Larsen Syndrome With Bilateral Hip Dislocation. Spine 2006;31(10):302-6.
  • NORD Guide to Rare Diseases. Philadelphia, PA: Lippincott Williams and Wilkins, 2003.
  • Steveson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen’s syndrome. Anaesthesiology 1991;75(1):142–4.
  • Liang CD, Hang CL. Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome. Pediatr Cardiol. 2001;22(3):245–6.
  • Bayhan G, Yalınkaya A, Yayla M, et al. Larsen Sendromu. Perinatoloji Dergisi 1999;7(4):332–4.
  • Banks JT, Wellons JC, Tubbs RS, et al. Cervical Spine Involvement in Larsen’s Syndrome: A Case Illustration. Pediatrics 2003;111(1):199-201.
  • Johnston CE, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen’s syndrome. J Bone Joint Surg Am 1996;78(4):538–45.
  • Sponseller PD. The spine in skeletal dysplasias. In: Weinstein SL, Ed. The Pediatric Spine, Principles and Practice, Second Edition. Philadelphia: Lippincott Williams &Wilkins, 2001:295–6.
There are 16 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Sarman H This is me

Publication Date December 1, 2013
Published in Issue Year 2013 Volume: 5 Issue: 3

Cite

APA H, S. (2013). Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu. Konuralp Medical Journal, 5(3), 51-54.
AMA H S. Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu. Konuralp Medical Journal. December 2013;5(3):51-54.
Chicago H, Sarman. “Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu”. Konuralp Medical Journal 5, no. 3 (December 2013): 51-54.
EndNote H S (December 1, 2013) Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu. Konuralp Medical Journal 5 3 51–54.
IEEE S. H, “Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu”, Konuralp Medical Journal, vol. 5, no. 3, pp. 51–54, 2013.
ISNAD H, Sarman. “Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu”. Konuralp Medical Journal 5/3 (December 2013), 51-54.
JAMA H S. Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu. Konuralp Medical Journal. 2013;5:51–54.
MLA H, Sarman. “Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu”. Konuralp Medical Journal, vol. 5, no. 3, 2013, pp. 51-54.
Vancouver H S. Larsen Sendromu: Yenidoğan Döneminde Literatür Eşliğinde Bir Olgu Sunumu. Konuralp Medical Journal. 2013;5(3):51-4.