Question

The characteristic triad of Klippel-Feil syndrome includes all of the following, except:

• A. Short neck
• B. Low hair line
• C. Limited neck movements
• D. Elevated scapula

Hint:

Short neck, low hairline and stiff neck are the triad; the high scapula is Sprengel deformity.

Answer 1

The Correct Option is D

Step 1: Recall the disease. Klippel-Feil syndrome is a congenital fusion of two or more cervical vertebrae caused by failure of normal segmentation of the cervical somites in early development.

Step 2: State the classic clinical triad. The three defining features are a short neck, a low posterior hair line, and restricted neck movement (especially limited lateral bending and rotation because the cervical vertebrae are fused).

Step 3: Match the options. A short neck (A), a low hair line (B) and limited neck movements (C) are all part of the recognised triad, so none of these is the exception.

Step 4: Identify the odd one out. An elevated scapula is the feature of Sprengel deformity. It is commonly associated with Klippel-Feil syndrome and the two often coexist, but it is not part of the defining triad.

Step 5: Since the question asks which is NOT in the triad, the answer is Elevated scapula (option D).