ea0065p100 | Bone and calcium | SFEBES2019
, Yamoah Kofi
Familial Hypophosphatemia is an inherited disorder of bone metabolism that affects 1 in 20 000 new-borns. The X-linked dominant form of the disease results from a genetic mutation of the PHEX gene. This leads to disordered regulation of fibroblast growth factor 23 resulting in reduced phosphate renal reabsorption and vitamin 1α Hydroxylation. Clinical features include short stature, rickets, craniosynostosis and dental abnormalities.Case: A 29 year ...