A 10-yr-old boy presented to a thoracic surgery outpatient clinic complaining of swelling of the left side of the chest. He had previously undergone a surgical repair of a chest deformity and was subsequently advised to undergo physical rehabilitation. Chest x-rays were consistent with Sprengel deformity (Fig. 1). The cervical spine was normal on x-rays. There was no family history of congenital anomalies. He did not complain of any pain or weakness in the upper limbs. The results of the physical and neurologic examinations of his upper limbs were normal. Neck range of motion was mildly limited in all directions. Active flexion of the shoulder was possible to 160 degrees and abduction to 140 degrees bilaterally.
In Sprengel deformity, the scapula on one or both sides is underdeveloped and abnormally high because of failure of the scapula to descend during embryonic development from its position in the neck to its normal position in the posterior thorax. The deformity usually occurs as a sporadic event, but some cases show Mendelian inheritance.1 It is more common in girls and may rarely be bilateral. It is also frequently associated with bone and soft tissue abnormalities.2 Our patient had a chest wall deformity and fusion of the right second and third ribs.
The aim of treatment is to improve function and cosmesis. The optimal age for operative intervention is controversial; however, most authors recommend performing surgery when the patients are younger than 8 yrs, as there is a risk of loss of adaptation owing to overextension of the surrounding tissues, that is, the brachial plexus.2,3 Our patient consulted orthopedic surgeons, who recommended no operative intervention. Therefore, we prescribed a home-based exercise regimen to maintain the range of motion and to strengthen the periscapular muscles.
Although rare, Sprengel deformity is the most common congenital deformity of the shoulder.2 It is diagnosed at birth usually only in severe cases. Diagnosis can often be delayed because patients have no additional abnormalities. The difficulty with surgery after 8 yrs of age enhances the importance of an early diagnosis.
1. Wilson MG, Mikity VG, Shinno NW: Dominant inheritance of Sprengel’s deformity. J Pediatr 1971; 79: 818–21
2. Grogan DP, Stanley EA, Bobechko WP: The congenital undescended scapula. Surgical correction by the Woodward procedure. J Bone Joint Surg Br 1983; 65: 598–605
3. Andrault G, Salmeron F, Laville JM: Green’s surgical procedure in Sprengel’s deformity: cosmetic and functional results. Orthop Traumatol Surg Res 2009; 95: 330–5