Question
A 14-year-old patient presents to the outpatient department with a noticeable deformity of the neck and upper back. On physical examination, the patient’s scapula is observed to be elevated and medially rotated, giving it the appearance of an equilateral triangle. 
The patient also has limited neck mobility. The patient and their family report that the deformity has been present since birth and has not improved over time.
The Xray of the Patient is shown below
What is the likely diagnosis for this patient’s condition?
a. Separated shoulder deformity
b. Torticollis
c. Klippel Feil deformity
d. Sprengel’s deformity
Correct Answer – C
Explanation
Explanation
Klippel Feil Deformity (C) is characterized by the congenital fusion of any two of the cervical vertebrae.
This congenital condition involves a fusion of two or more cervical vertebrae, resulting in a short neck and limited neck mobility. The characteristic “triangular” appearance of the neck due to scapular elevation and medial rotation is a hallmark of Klippel Feil deformity
About out other options
Separated Shoulder Deformity (A) refers to an injury where the collarbone (clavicle) separates from the acromion of the scapula. This condition is typically traumatic and does not match the congenital nature or the specific symptoms described in the patient’s presentation.
Torticollis (B), or “wry neck,” involves a condition where the head is tilted to one side, and the chin is turned to the opposite side. While it can be congenital, the primary symptom is the abnormal head and neck position, not the short neck or limited mobility described.
Sprengel’s deformity is a congenital condition where the scapula is elevated and rotated medially, resulting in a higher position of the scapula on one side of the back. However, Sprengel’s deformity is usually not associated with limited neck mobility. The triangular appearance of the neck is more closely associated with Klippel Feil deformity