Description

Sprengel Deformity (SD), characterized by elevated and hypoplastic scapula, though rare, is the commonest congenital shoulder anomaly [1]. Affected patients face functional limitations (reduced range of movements at the shoulder), aesthetic concerns (asymmetric shoulder contours), and associated anomalies (congenital scoliosis and chest wall abnormalities) [2]. A 10 y-old-boy presented with deformity and restricted movement of the right shoulder from birth. Examination revealed an elevated right scapula with medial rotation of the inferior pole, typical of SD (Figure 1). Shoulder abduction was restricted. X-ray taken in infancy revealed scoliosis, hemivertebra and rib anomalies (Figure 2). Syndromes associated with SD include inencephaly (a triad of occipital defect, spina bifida of cervical vertebrae, and fixed retroflexion of the head) and Klippel-Feil syndrome. Rib anomalies are the commonest extraspinal anomaly described [1]. Surgical correction can provide a satisfactory cosmetic and functional outcome, with a low complication rate. Pediatricians need to be aware of SD and the associated anomalies for timely referral to achieve the best surgical results.

Figure 1: Typical scapular deformity.

Figure 2: Chest X ray showing scoliosis, hemivertebra and rib anomalies.

References

1. Öner A, Aşansu MA, Akman YE. Sprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients. Spine (Phila Pa 1976). 2020; 45: E1150-E1157.
2. Vuillermin C, Wang KK, Williams KA, Hresko MT, Waters PM. Sprengel’s deformity: an analysis of surgically and nonsurgically treated patients. J Shoulder Elbow Surg. 2021; 30: e1-e9.