title: Pseudohypoparathyroidism presenting with bony deformities resembling rickets.
abstract: Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin D. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Anurag
authors.initials: A
authors.lastname: Bajpai
authors.forename: Jyoti
authors.initials: J
authors.lastname: Sharma
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D001847:Bone Diseases / Q000209:etiology*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D011547:Pseudohypoparathyroidism / Q000150:complications*; D012279:Rickets / Q000209:etiology*