Fibrodysplasia ossificans progressiva in Hong Kong-A case report series

Joshua Chun Ki Chan,Evelyn Eugenie Kuong, Joyce Pui Kwan Chan, Ho Ming Luk,Jasmine Lee Fong Fung,Joanna Yuet-ling Tung,Brian Hon Yin Chung

FRONTIERS IN PEDIATRICS（2023）

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摘要

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare condition. The diagnosis could be challenging due to its rarity and non-specific presenting symptoms. However, early diagnosis and appropriate management help in preserving patients' function and quality of life. Herein, we report the diagnostic journeys and clinical courses of 8 patients with FOP in Hong Kong and illustrate the challenges involved.

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关键词

case report, fibrodysplasia ossificans progressiva, ACVR1, Hong Kong, FOP

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