Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report

Area of Science:

• Medical Case Report
• Orthopedics
• Genetics

Background:

• Klippel-Feil syndrome is a congenital disorder characterized by the fusion of two or more cervical vertebrae.
• It is often associated with a spectrum of skeletal and extraskeletal anomalies.
• This condition can present with varying degrees of severity and associated malformations.

Observation:

• A 55-year-old male presented with a year of neck pain, headaches, and syncope post-trauma.
• Cervical spine imaging confirmed fused vertebral bodies from C2 to C5.
• The patient exhibited numerous major and minor anomalies, including rhinoscoliosis and a high nasal bridge, indicative of Klippel-Feil syndrome.

Findings:

• The case details a rare presentation of Klippel-Feil syndrome in an adult.
• Specific focus is given to the unusual nasal anomalies observed in this patient.
• Notably, the patient sustained no central cord impairment despite severe cervical trauma.

Implications:

• This report expands the understanding of Klippel-Feil syndrome's phenotypic variability, particularly concerning craniofacial and nasal structures.
• It underscores the importance of comprehensive evaluation in Klippel-Feil syndrome patients, even in adulthood.
• The findings contribute to the literature on rare congenital disorders and their complex presentations.