Radiographic findings in the nail-patella syndrome.

Area of Science:

• Genetics and rare diseases
• Orthopedics and skeletal dysplasias

Background:

• Nail-patella syndrome is a rare autosomal dominant genetic disorder.
• It is characterized by a tetrad of symptoms: nail abnormalities, patellar abnormalities, elbow dysplasia, and iliac horns.

Observation:

• This report details the radiographic findings of a woman diagnosed with nail-patella syndrome.
• Imaging focused on the elbows, knees, and pelvis to document skeletal manifestations.

Findings:

• Radiographs confirmed classic features of nail-patella syndrome.
• Key findings included hypoplastic patellae, elbow dysplasia, and iliac horns, consistent with the syndrome's diagnostic criteria.

Implications:

• Understanding the radiographic spectrum is crucial for accurate diagnosis of nail-patella syndrome.
• This case contributes to the literature on skeletal manifestations of rare genetic disorders.