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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Working Groups

ESPE Bone and Growth Plate Working Group (BGP)

hrp0086wg4.1 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

The Genetics of Overgrowth Syndromes

Tatton-Brown Katrina

Human growth results from an increase in cell size, cell division and amount of interstitium and is determined by the complex interplay of genetic and environmental factors. Over the last 14 years our group has been studying growth through the genetic interrogation of rare individuals presenting with syndromic overgrowth defined as an increased height and/or head circumference, compared to the age-related peer group, in combination with an intellectual disability. In the years...

hrp0086wg4.2 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

Hypercalcaemic Disorders in Children

Thakker Rajesh V.

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

hrp0086wg4.4 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

“A Clinical and Genetic Approach to Diagnosis and Treatment of Fractures in Infancy”

Semler Oliver

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

hrp0086wg4.5 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

FGF23, Klotho and PTH in the Regulation of Mineral Homeostasis

Carpenter Thomas

Background: The Fibroblast Growth Factors (FGFs) are a large family of proteins including paracrine, intracrine, and endocrine FGFs. Paracrine and endocrine FGFs interact with specific cell surface receptors (FGFRs) that, via intracellular tyrosine kinase activity, initiate a cascade of downstream intracellular events. Specificity of paracrine/autocrine FGF activity is provided locally by the local production of these FGFs and their cognate receptors. In contrast, endocrine FG...