What is a common presentation of Klippel-Feil syndrome?

What is a common presentation of Klippel-Feil syndrome?

• A. Shortened stature
• B. Appearance of having no neck
• C. Winging of the scapula
• D. Increased range of motion

Answer: (B)

Klippel-Feil syndrome is characterized by the congenital fusion of two or more cervical vertebrae, which results in various clinical manifestations. A hallmark presentation of this condition is the appearance of having no neck, often described as a short neck. This is primarily due to the cervical spine anomalies, which restrict the normal development and movement of the cervical vertebrae, leading to a characteristic physical appearance. The other choices do not align with the primary features of Klippel-Feil syndrome. Shortened stature is not a defining aspect of this condition; while individuals may sometimes have associated growth issues, it is not a direct outcome of the syndrome. Winging of the scapula is more commonly associated with nerve dysfunction or muscle weakness rather than vertebral fusion. Increased range of motion would contradict the nature of the syndrome, as the fusion of vertebrae typically results in reduced cervical mobility rather than increased range. Thus, the correct response captures the defining visual characteristic associated with Klippel-Feil syndrome.

Klippel-Feil syndrome is characterized by the congenital fusion of two or more cervical vertebrae, which results in various clinical manifestations. A hallmark presentation of this condition is the appearance of having no neck, often described as a short neck. This is primarily due to the cervical spine anomalies, which restrict the normal development and movement of the cervical vertebrae, leading to a characteristic physical appearance.

The other choices do not align with the primary features of Klippel-Feil syndrome. Shortened stature is not a defining aspect of this condition; while individuals may sometimes have associated growth issues, it is not a direct outcome of the syndrome. Winging of the scapula is more commonly associated with nerve dysfunction or muscle weakness rather than vertebral fusion. Increased range of motion would contradict the nature of the syndrome, as the fusion of vertebrae typically results in reduced cervical mobility rather than increased range. Thus, the correct response captures the defining visual characteristic associated with Klippel-Feil syndrome.