Albright hereditary osteodystrophy: Delay in the diagnosis of a rare disorder due to restricted medical services

Abstract

Abstract A teenage Afghan girl presented with seizure. Clinical features and laboratory investigations revealed elevated serum parathormone, high phosphate levels with low serum calcium. In third‐world countries, diagnosis of rare disorders, such as Albright hereditary osteodystrophy (AHO), can usually be delayed due to scarcity of standard medical and diagnostic services.

Keywords

• Albright hereditary osteodystrophy
• brachydactyly
• hypocalcaemia
• pseudohypoparathyrodism