Multidisciplinary approach in diagnosis and treatment of Fong disease

被引:0
|
作者
Gecheva, Nia A. [1 ,2 ,5 ]
Angelov, Valentin [1 ,2 ]
Kaneva, Radka [3 ,4 ]
Dikova, Milka [1 ,2 ]
机构
[1] Med Univ Sofia, Dept Orthoped & Traumatol, Sofia 1431, Bulgaria
[2] Univ Hosp Orthoped Prof B Boichev, Dept Pediat Orthopaed & Hand Surg, Sofia, Bulgaria
[3] Med Univ Sofia, Med Fac, Mol Med Ctr, Dept Med Chem & Biochem, Sofia 1431, Bulgaria
[4] Med Univ Sofia, Med Fac, Dept Med Chem & Biochem, Lab Genom Diagnost, Sofia 1431, Bulgaria
[5] Univ Hosp Orthoped Prof B Boychev, Clin Pediat Orthoped, Blvd Nikola Petkova 56, Sofia, Bulgaria
来源
JOURNAL OF SURGICAL CASE REPORTS | 2024年 / 2024卷 / 04期
关键词
Fong disease; patella; genetic; diagnostics; NAIL-PATELLA SYNDROME; DYSTROPHY;
D O I
10.1093/jscr/rjae207
中图分类号
R61 [外科手术学];
学科分类号
摘要
Nail-patella syndrome, also known as Fong disease, is an uncommon autosomal dominant disorder characterized by a distinctive set of features, including fingernail abnormalities, hypoplastic patellae, radial head dislocation, and iliac horns. This condition often leads to patellar subluxation or dislocation, resulting in knee instability and pain. While existing literature predominantly focuses on the clinical and radiological aspects of nail-patella syndrome-related knee manifestations, only a limited number of articles delve into a meticulous approach to the condition with a comprehensive strategy for diagnosis. We present an atypical case of Fong disease distinguished by unique genetic characteristics and subsequently subjected to a thorough clinical assessment and a meticulously planned operative treatment regimen.
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页数:4
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