Malignant hypophosphathaemic bone disease.
A case of crippling osteoporosis with muscular weakness, hypophosphatemia, hyperparathyroidism, defective skeletal calcification and cartilage destruction is reported. The patient, a male was observed from the age of 2 1/2 until his death at the age of 33 years. This bone/cartilage disease failed to respond to phosphate supplementation, parathyroidectomy and calcitriol. We believe this may represent a hitherto undescribed entity.
Kozlowski
K
K
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Posen
S
S
D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging* / Q000628:therapy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D017674:Hypophosphatemia / Q000000981:diagnostic imaging* / Q000628:therapy; D008297:Male; D011859:Radiography