Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p22 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Hypophosphatemic rickets associated with the BCS1L gene

Pereira Balbi Camilla , Fernandes Madureira Maíra , de Souza Lima Joziele , Werneck Gabriela , Bhavana Selvarajah , Andrew Titman , Joanne Blair

We present a 9 years old girl, L.B, referred to Pediatric Endocrinology due to progressive deformity in lower limbs since 7 years of age. This is a previously healthy child, no neonatal complications and adequate neuromotor development. At 2 years old, a thin hair appearance was noticed. She had a poor daily calcium intajke of 400mg/day and adequate sun exposure. At physical examination, it was noted severe short stature (-3.8 SDS), genus valgus, widening of wrists and ankles,...