Searchable abstracts of presentations at key conferences in endocrinology
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19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

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20-23 May 2017, Lisbon, Portugal Further information

Eposter Presentations: Calcium and Bone

Paediatric endocrinology

ea0049ep352 | Paediatric endocrinology | ECE2017

Progressive osseous heteroplasia in a child with pseudohypoparathyroidism type I

Vintila Madalina , Gherlan Iuliana , Dumitrescu Cristina , Dumitrascu Anda , Procopiuc Camelia

Introduction: Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive heterotopic ossification (HO), from skin and subcutaneous tissues into deep skeletal muscles. Most cases are caused by heterozygous inactivating mutations of GNAS gene. Related disorders are Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and primary osteoma cutis. Distinction from other GNAS-based conditions is made by the extension of HO from superficial ...