Endocrine Abstracts

Background and aims: Rickets is a childhood condition resulting from impaired mineralisation of the growth plate, resulting in bony deformities. A retrospective survey was undertaken to identify causes of rickets in children treated at the Royal Manchester Children’s Hospital from 2009 to 2014.Methods: Cases of rickets were identified through a search of all paediatric radiology reports containing the words ‘Rickets’ or ‘Osteomalacia&...

Introduction: Pycnodysostosis (PYCD) is a rare autosomal recessive disorder caused by a mutation in cathepsin K (CTSK) gene resulting in increased bone density. The condition is characterised by short stature, acro-osteolysis of distal phalanges, osteosclerosis with increased bone fragility, dysplastic clavicula, delayed closure of sutures, mandibular hypoplasia, dental crowding and upper airway obstruction, causing obstructive sleep apnoea syndrome (OSAS). We...