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

Sahar Noor, Nasrin Hakimzada, Nijatullah Safi, Sultan Mahmood Alikozai,Abdul Jamil Rasooli, Tooryalai Jalalzai, Qais Siddiqui, Ahmad Jalil Sestani,Najla Nasir,Sarah Noor,Ahmed Maseh Haidary,Saifullah Khalid

Clinical Case Reports（2023）

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摘要

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.

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关键词

Albright hereditary osteodystrophy,brachydactyly,hypocalcaemia,pseudohypoparathyrodism

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