Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p215 | (1) | ICCBH2019

Evaluating the natural history of subcutaneous fat necrosis

Lautatzis Maria-Elena , Harrington Jennifer

Background: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon condition most commonly seen in term infants who have experienced perinatal stress presenting as nodules or plaques on the face, back or upper extremities. The associated complication of hypercalcemia is thought to be secondary to elevated 1,25-OH vitamin D from increased expression of 1-alpha hydroxylase from inflammatory granulomatous cells. However the natural history of SCFN, associated hypercalcemi...

ba0002p42 | (1) | ICCBH2013

The effect of glucocorticoids on bone indices in children with rheumatic and oncological conditions

Harrington Jennifer , Sochett Etienne , Grynpas Marc

Children with chronic medical conditions are at increased risk for bone fragility from multiple mechanisms, related both to the underlying condition and its treatment, in particular glucocorticoids. The differential effects of the underlying medical disease on bone micro-architecture have not been well elucidated.Objectives: To describe the bone micro-architectural characteristics in children with rheumatic and oncological disorders treated with glucocor...

ba0006p109 | (1) | ICCBH2017

Microdeletion of 12p11.22-p11.21 resulting in a skeletal dysplasia characterized by significant metaphyseal abnormalities and osteolysis

Harrington Jennifer , Howard Andrew , Spielmann Malte , Kannu Peter

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...

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...