ea0036P15 | (1) | BSPED2014
Gopal-Kothandapani Jaya Sujatha
, Hobson Sally A
, Offiah Amaka C
, Arundel Paul
Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight+1.05 S.D.; height −0.1 S.D.) with consanguineous parents of...