Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu–Cheney syndrome

Abstract

Hajdu-Cheney syndrome (MIM 102500) is a rare skeletal dysplasia marked by severe generalized osteoporosis and focal bone loss (acro-osteolysis). Osteoporosis treatment outcome has been reported only once previously. Reported herein is the biochemical and densitometric response to integrated anti-remodeling and anabolic therapy in a woman with Hajdu-Cheney syndrome. Results suggest dissociation of bone formation from bone resorption resulting in dramatic increases in bone mineral density without clinical evidence of activated osteoporosis.