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Pediatric Radiology

, Volume 36, Issue 9, pp 970–973 | Cite as

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

  • Yasemin AlanayEmail author
  • Gulen Eda Utine
  • Ralph S. Lachman
  • Deborah Krakow
  • Ergul Tuncbilek
Case Report

Abstract

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic “cylindrical-shape” thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder.

Keywords

Bifid thumb Accessory thumb ossification Larsen syndrome Filamin B 

Notes

Acknowledgements

The authors wish to thank the patient, the family and the family’s physicians for participating in the study described here. The work was supported in part by grants from the NIH (HD22657) and the Joseph Drown Foundation to D.K. and by the NIH-sponsored General Clinical Research Center Grant M01-RR00425 to Cedars-Sinai Medical Center. Y.A. was supported by a grant from the Scientific and Technological Research Council of Turkey (TUBITAK).

References

  1. 1.
    Larsen LJ, Schottstaedt ER, Bost FC, et al (1950) Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 37:574–581CrossRefPubMedGoogle Scholar
  2. 2.
    Krakow D, Robertson SP, King LM, et al (2004) Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 36:405–410CrossRefPubMedGoogle Scholar
  3. 3.
    Latta RJ, Graham CB, Aase J, et al (1971) Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 78:291–298CrossRefPubMedGoogle Scholar
  4. 4.
    Steel HH, Kohl EJ (1972) Multiple congenital dislocations associated with other skeletal anomalies. J Bone Joint Surg Am 54:75–82PubMedGoogle Scholar
  5. 5.
    Kozlowski K, Robertson F, Middleton R, et al (1974) Radiographic findings in Larsen’s syndrome. Australas Radiol 18:336–344PubMedCrossRefGoogle Scholar
  6. 6.
    Katz DA, Hall JE, Emans JB, et al (2005) Cervical kyphosis associated with anteroposterior dissociation and quadriparesis in Larsen’s syndrome. J Pediatr Orthop 25:429–433CrossRefPubMedGoogle Scholar
  7. 7.
    Silverman FN (1972) Larsen’s syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate (Le syndrome de Larsen). Ann Radiol 15:297–328PubMedGoogle Scholar
  8. 8.
    De Smet L, Legius E, Fabry G, et al (1993) The Larsen syndrome. The diagnostic contribution of the analysis of the metacarpophalangeal pattern profile. Genet Couns 4:157–164PubMedGoogle Scholar
  9. 9.
    Laville JM, Lakermance P, Limouzy F, et al (1994) Larsen’s syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop 14:63–73PubMedGoogle Scholar
  10. 10.
    Taybi H, Lachman RS (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby, St. Louis, p 768Google Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Yasemin Alanay
    • 1
    • 2
    Email author
  • Gulen Eda Utine
    • 1
  • Ralph S. Lachman
    • 2
    • 3
    • 4
  • Deborah Krakow
    • 2
    • 5
  • Ergul Tuncbilek
    • 1
  1. 1.Clinical Genetics Unit, Department of Pediatrics, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  2. 2.Medical Genetics InstituteCedars-Sinai Medical CenterLos AngelesUSA
  3. 3.Department of Radiological SciencesDavid Geffen School of Medicine at UCLALos AngelesUSA
  4. 4.Department of PediatricsDavid Geffen School of Medicine at UCLALos AngelesUSA
  5. 5.Department of Obstetrics and GynecologyDavid Geffen School of Medicine at UCLALos AngelesUSA

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