Bone Abstracts

Background: Parathyroid hormone-like hormone (PTHLH) is an important regulator of endochondral bone development. Mutations of the PTHLH gene can cause a variety of different skeletal dysplasias, with duplications of the PTHLH gene resulting in a phenotype characterized by endochrondomatosis, metaphyseal dysplasia and osteolysis.Presenting problem: Our patient presented at the age of 4 months, given concerns regarding lower limb deformit...

Background: Families of children with Osteogenesis Imperfecta (OI) make costly modifications to their home, lifestyle and employment and incur costs of rehabilitative, preventative and adaptive care for their child. While parents have readily identified that these costs are financially burdensome, the degree of financial burden has not yet been described in families of children with OI.Objectives: To evaluate the out of pocket, OI related expenses (ExpOI...

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...