Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p197 | (1) | ICCBH2017

Financial burden in families of children with osteogenesis imperfecta (OI)

Murphy Anne , Howard Andrew , Sochett Etienne , Harrington Jennifer

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...

ba0007p90 | (1) | ICCBH2019

Osteogenesis imperfecta due to FKBP10 mutation- shift from high to low bone turnover

Lenherr-Taube Nina , Harrington Jennifer , Murphy Anne , Filipowski Kornelia , Kin On Wong Andy , Horward Andrew , Sochett Etienne

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...