A 13-year-old female child is referred for evaluation of intellectual diasability. On examination, she has a short stature, round face and is obese. Her hands and feet are peculiar in that the fourth metatarsal and metacarpal bones are shortened. She has multiple subcutaneous nodules in her arms and abdomen. Investigations reveal normal blood routine. Her serum calcium levels are lowered and phosphate levels are elevated. Hormone studies reveal elevated parathyroid hormones but normal thyroid and gonadotropin levels.
X-rays show dysplasia and shortening of metatarsal and metacarpal bones. CT scan shows calcification of the basal ganglia. maternal short stature is documented. She has had numerous visits to the dentist for recurrent dental caries and past history of seizures. What is the diagnosis? Source: Analesdepediatria
