Fibrodysplasia ossificans progressiva in Hong Kong-A case report series

被引：0

作者：

Chan, Joshua Chun Ki ^{[1
]}

Kuong, Evelyn Eugenie ^{[2
,3
]}

Chan, Joyce Pui Kwan ^{[2
,4
]}

Luk, Ho Ming ^{[5
]}

Fung, Jasmine Lee Fong ^{[6
]}

Tung, Joanna Yuet-ling ^{[2
,7
]}

Chung, Brian Hon Yin ^{[2
,6
]}

机构：

[1] Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[2] Hong Kong Childrens Hosp, Skeletal Dysplasia Joint Clin, Hong Kong, Peoples R China

[3] Duchess Kent Childrens Hosp, Dept Orthopaed & Traumatol, Hong Kong, Peoples R China

[4] Hong Kong Childrens Hosp, Dept Radiol, Hong Kong, Peoples R China

[5] Hong Kong Childrens Hosp, Clin Genet Serv Unit, Hong Kong, Peoples R China

[6] Univ Hong Kong, LKS Fac Med, Sch Clin Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[7] Hong Kong Childrens Hosp, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

来源：

FRONTIERS IN PEDIATRICS | 2023年 / 11卷

关键词：

case report; fibrodysplasia ossificans progressiva; ACVR1; Hong Kong; FOP; PHENOTYPE; GENOTYPE;

D O I：

10.3389/fped.2023.1152731

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

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.

引用

页数：8

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