Endocrine Abstracts

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...