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Case Reports
. 2013 May;125(9-10):288-90.
doi: 10.1007/s00508-013-0358-7. Epub 2013 Apr 18.

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder

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Case Reports

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder

Alexander Jurko Jr et al. Wien Klin Wochenschr. 2013 May.

Abstract

Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.

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References

    1. Hum Mutat. 2002 Jan;19(1):39-48 - PubMed
    1. South Med J. 2002 Jul;95(7):753-5 - PubMed
    1. Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):59-62 - PubMed
    1. Orphanet J Rare Dis. 2006 Jun 01;1:20 - PubMed
    1. J Med Genet. 1994 Aug;31(8):640-3 - PubMed

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