Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep20 | (1) | SFEBES2016

Adult presentation of hypophosphatasia due to a novel compound heterozygous Tissue Nonspecific Alkaline Phosphatase (ALPL) mutation

Farrell Catriona , Strachan Judith , Sankar Sripada , McWilliam Catherine , Alipour Faz , Newey Paul , Schofield Chris

A previously well 27-year old female presented with atraumatic foot pain to the orthopaedic service and was identified to have a healing subacute metatarsal stress fracture in the right foot. In view of the unusual presentation, the patient was referred to the metabolic bone clinic for further evaluation.On initial evaluation the patient reported no prior skeletal, joint or dental problems. However at the time of review she reported pain in her right thi...