What anomaly is characterized by hypoplastic and elevated scapulae associated with Klippel-Feil syndrome?

• A. Sprengel deformity
• B. Scoliosis
• C. Rib hypoplasia
• D. Hemivertebrae

Answer: (A)

The condition characterized by hypoplastic and elevated scapulae associated with Klippel-Feil syndrome is known as Sprengel deformity. This congenital condition involves an undescended and often malformed scapula, which can often present as a high-riding shoulder due to the failure of the scapula to descend properly during fetal development. In individuals with Klippel-Feil syndrome, which is characterized by the fusion of cervical vertebrae, the presence of Sprengel deformity can further complicate the clinical picture by affecting shoulder mobility and stability.

In cases of Sprengel deformity, one might observe not only the elevated scapulae but also accompanying restrictions in shoulder movement due to the abnormal positioning of the scapula and its articulation with the humerus. These patients may also demonstrate varying degrees of asymmetry and functional limitations. The association with Klippel-Feil syndrome highlights the importance of a comprehensive evaluation for spinal and shoulder girdle anomalies in patients presenting with this condition.