Bone Abstracts

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...