Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

Frontiers in Pediatrics

Pediatrics

Ho Ming Luk¹  Joshua Chun Ki Chan²  Jasmine Lee Fong Fung³  Evelyn Eugenie Kuong⁴  Joanna Yuet-ling Tung⁵  Brian Hon Yin Chung⁶  Joyce Pui Kwan Chan⁷ 

[1] Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China;Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong SAR, China;Skeletal Dysplasia Joint Clinic, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Department of Orthopaedics and Traumatology, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong SAR, China;Skeletal Dysplasia Joint Clinic, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Skeletal Dysplasia Joint Clinic, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong SAR, China;Skeletal Dysplasia Joint Clinic, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;Department of Radiology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China;

关键词: case report;    fibrodysplasia ossificans progressiva;    ACVR;    Hong Kong;    FOP;   

DOI  :  10.3389/fped.2023.1152731

 received in 2023-01-28, accepted in 2023-03-27,  发布年份 2023

来源: Frontiers

【 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.

【 授权许可】

Unknown   
© 2023 Chan, Kuong, Chan, Luk, Fung, Tung and Chung.