Multidisciplinary approach in diagnosis and treatment of Fong disease

Author:

Gecheva Nia A12,Angelov Valentin12,Kaneva Radka3456,Dikova Milka12

Affiliation:

1. Department of Orthopedics and Traumatology , Medical University Sofia, Sofia 1431, Bulgaria

2. Department of Pediatric Orthopaedics and Hand Surgery , University Hospital of Orthopedics “Prof.B. Boichev”, Sofia, Bulgaria

3. Department of Medical Chemistry and Biochemistry, Medical Faculty , Molecular Medicine Center, , Sofia 1431, Bulgaria

4. Medical University Sofia , Molecular Medicine Center, , Sofia 1431, Bulgaria

5. Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry , Medical Faculty, , Sofia 1431, Bulgaria

6. Medical University Sofia , Medical Faculty, , Sofia 1431, Bulgaria

Abstract

Abstract 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.

Publisher

Oxford University Press (OUP)

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