ESPE Abstracts

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic variants in the ACAN gene.Case: Female, was referred to our clinic for short stature. Born at 34+3 weeks from a Thai mother and Caucasian father, birth weight was 2190g (0.14 SDS), length 45cm (0.21 SDS) and head circumference 31cm (-0.13 SDS). Pregnancy was obtained by in vitro fertilization...