1 results match your criteria: "Sapienza University of Rome Center for Congenital Osteodystrophies[Affiliation]"

Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.

Medicine (Baltimore)

August 2016

Universitary Department of Anatomic, Histologic, Forensic and Locomotor Apparatus Sciences-Section of Locomotor Apparatus Sciences, Sapienza University of Rome Center for Congenital Osteodystrophies, Pediatric Department-Policlinico Umberto I, Italy.

Background: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized.

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