Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the <em>WNT1</em> Gene and Review of the Literature

INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fractures and low bone mass. Recently, mutations of the WNT1 gene have been reported to be causative in OI. The mutation in WNT1 causes autosomal-recessive OI due to its critical role in bone formation. WNT1 mutations cause varying degrees of clinical severity, ranging from moderate to progressively deforming forms. In addition to the OI phenotype, our cases also had extra-skeletal findings.