Literature DB >> 15017482

Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?

Serhan Küpeli1, Ayşe Korkmaz, Almila Bulun, Murat Yurdakök, Ergül Tunçbilek.   

Abstract

Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Although it is a connective tissue disorder affecting bone structure and formation, coexistence of bony fractures in CCA patients have not been reported before. In this article we report a newborn infant diagnosed with CCA who developed a femoral fracture possibly due to abnormal bone structure and birth injury in spite of cesarean delivery.

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Year:  2004        PMID: 15017482     DOI: 10.1055/s-2004-820509

Source DB:  PubMed          Journal:  Am J Perinatol        ISSN: 0735-1631            Impact factor:   1.862


  1 in total

Review 1.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  Ergül Tunçbilek; Yasemin Alanay
Journal:  Orphanet J Rare Dis       Date:  2006-06-01       Impact factor: 4.123

  1 in total

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