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Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

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Abstract

We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition.

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References

  1. Alagille D. Alagille syndrome today. Clin Invest Med 1996; 19:325–330.

    CAS  PubMed  Google Scholar 

  2. Pombo F, Isla C, Gayol A, Bargiela A. Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome. Pediatr Radiol 1995; 25: 314–315.

    CAS  PubMed  Google Scholar 

  3. Berrocal T, Gamo E, Navalon J, et al. Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. Eur Radiol 1997; 7:115–118.

    Article  CAS  PubMed  Google Scholar 

  4. Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet 1997; 34:152–157.

    CAS  PubMed  Google Scholar 

  5. Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997; 16:243–251.

    CAS  PubMed  Google Scholar 

  6. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatr Radiol 2002; 32:114–119.

    Article  PubMed  Google Scholar 

  7. Przkora R, Schmitz A, Perlick L, Koenig R, Jaeger U, Schmitt O. Butterfly vertebrae and scoliosis: Alagille syndrome. Z Orthop Ihre Grenzgeb 2002; 140:182–184.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, Vancouver General Hospital, 899 W 12th Avenue, Vancouver, BC, V5Z 1M9, Canada

    R. S. Ryan & P. Munk

  2. Department of Rheumatology, Vancouver General Hospital, Vancouver, BC, Canada

    S. O. Myckatyn & G. D. Reid

  3. The University of British Columbia, Vancouver, BC, Canada

    R. S. Ryan, S. O. Myckatyn, G. D. Reid & P. Munk

Authors
  1. R. S. Ryan
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  2. S. O. Myckatyn
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  3. G. D. Reid
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  4. P. Munk
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Correspondence to P. Munk.

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Ryan, R.S., Myckatyn, S.O., Reid, G.D. et al. Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review. Skeletal Radiol 32, 489–491 (2003). https://doi.org/10.1007/s00256-003-0651-z

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  • DOI: https://doi.org/10.1007/s00256-003-0651-z

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