hrp0097p1-221 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Celiac disease in a patient with Sclerosteosis: an association or just a co-incidence?

Abdelmeguid Yasmine , Riad Salma , Mokhtar Nada , Taha El-Hendawy Mahmoud

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...