ea0065p111 | Bone and calcium | SFEBES2019
Toellner Hannah
, Chong Zhuo Min
, Srivastava Rajeev
, McNeilly Jane
, Koppel David
, Sangra Meharpal
, Shaikh Guftar
, McDevitt Helen
, Mason Avril
, Kinning Esther
, Ahmed Syed Faisal
Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...