Summary Statement. Sprengel's deformity is a rare congenital anomaly, with scapula malposition. We present a unique subgroup of Sprengel's possessing a cleithrum, an ancestral remnant of shoulder-girdle development found in bony-fish. This challenges management providing valuable insight into scapular embryology and development. Introduction. Sprengel's deformity is a rare congenital anomaly of the shoulder girdle characterised by scapula malposition, associated with atrophy of periscapular muscles causing disfigurement and limited shoulder movement. Traditionally, it has been managed by omovertebral bar excision and muscle transplantation procedures guided by age and Cavendish grading. We present a unique, previously undescribed observation in humans: a case series of patients with Sprengel's deformity possessing a cleithrum, an ancestral remnant of shoulder-girdle development found in archaic bony fish. Methods. Nine patients presented with a so-called ‘Sprengel deformity’ to a tertiary referral shoulder clinic. All were assessed clinically and radiologically with scapular radiographs, and CT and/or MRI scans. The clinical (functional and cosmetic) and radiological features were classified according to Cavendish and Rigault systems, respectively and scapular ratio, assessed. Results. All patients were classed grade 4 on the Cavendish scale. Six were grade 2 and three were grade 3 on the Rigault scale. Mean scapular ratio was 1.04. Associated renal, craniocervical and cervicothoracic anomalies were present. The distinguishing surgical patho-anatomical feature was partial endomuscular ossification of medial scapular suspension muscles, analogous with the cleithrum of bony fish. The bone commonly articulated with the spinal column through pseudarthroses. Conclusions. This finding of the cleithrum not only challenges classic management of this rare patient group, as it cannot be managed by traditional muscle transplantation procedures, but offers insight into scapular embryology and development. The association of scapular developmental and urogenital anomalies suggests screening investigation of renal tracts in those with undescended scapula syndrome is relevant, and further genetic investigation might be pertinent to understand scapular development and pathology. We suggest, to emphasise the nature of the incomplete scapular descent and associated congenital anomalies, and clarify the imprecise common usage of the term ‘Sprengel’ this condition be called the ‘Congenital Undescended Scapula Syndrome’

The outcome of 56 children (61 shoulders) treated surgically at the Rizzoli Institute between April 1975 and June 2010 for congenital elevation of the scapula is reported. There were 31 girls and 25 boys with a mean age at surgery of 6.4 years (2 to 15). The deformity involved the right shoulder in 20 cases, the left in 31 and was bilateral in five. The degree of the deformity was graded clinically and radiologically according to the classifications of Cavendish and Rigault, respectively. All patients underwent a modified Green procedure combined, in selected cases, with resection of the superomedial portion of the scapula and excision of any omovertebral connection. After a mean follow-up of 10.9 years (1 to 29.3), there was cosmetic improvement by at least one Cavendish grade in 54 shoulders (88.5%). The mean abduction of the shoulder improved from 92° (50° to 155°) to 112° (90° to 170°) and the mean flexion improved from 121° (80° to 160°) to 155° (120° to 175°). The unsatisfactory cosmetic result in seven shoulders was due to coexistent scoliosis in two cases and insufficient reduction of the scapular elevation in the other five. An incomplete upper brachial plexus palsy occurred post-operatively in three patients but resolved within seven months.

We suggest that a modified Green procedure combined with resection of the superomedial portion of the scapula provides good cosmetic and functional results in patients with Sprengel’s shoulder.

Background: Congenital anomalies of the chest wall and Sprengel’s shoulder are often associated with congenital deformities of the spine. It has been suggested that extensive rib fusions on the concavity of a congenital scoliosis may adversely affect progression of the spine deformity, thoracic function and growth of the lungs, which can lead to a thoracic insufficiency syndrome. Methods: This is a retrospective study of the medical records and spine radiographs of 620 consecutive patients with congenital spine deformities. The rib anomalies were classified into simple and complex and the presence of a Sprengel’s shoulder was recorded. Subjects: There were 497 patients (80%) with scoliosis, 88 patients (14%) with kyphoscoliosis, and 35 patients with kyphosis (6%). The mean rate of scoliosis deterioration without treatment, age and curve size at surgery was compared for the different types of vertebral abnormalities in patients with and without rib anomalies. Results: Rib anomalies occurred in 124 patients. The rib anomalies were simple in 97 patients (78%) and complex in 27 (22%). The most common simple rib anomaly (70 patients; 72%) was a fusion of two or three ribs. The most common complex rib anomaly (20 patients; 74%) was a fusion of multiple ribs associated with a large chest wall defect. Rib anomalies were most commonly associated with a congenital scoliosis (116 patients; 93.6%), and much less frequently with a congenital kyphoscoliosis or kyphosis (8 patients). In those patients with a scoliosis, the rib anomalies were simple in 91 patients (78.5%) and complex in 25 patients (21.5%). Eighty-eight of the 124 patients (76%) with rib abnormalities had a scoliosis due to a unilateral unsegmented bar with or without contra-lateral hemivertebrae at the same level, and 8 patients had mixed unclassifiable vertebral anomalies. In contrast, only 17 patients with a scoliosis and rib anomalies had hemivertebrae alone. The rib anomalies were most frequently associated with a thoracic or thoracolumbar scoliosis (107 patients; 92.2%) and occurred on the concavity in 81 patients (70%), convexity in 27 patients (23%), and were bilateral in 8 patients. Sprengel’s deformity occurred in 45 patients; 43 patients with congenital scoliosis (8.6%), and 2 with kyphoscoliosis or kyphosis. A Sprengel’s shoulder occurred most frequently in association with a thoracic scoliosis due to a unilateral failure of vertebral segmentation (28 patients). The elevated shoulder was on the concavity of scoliosis in 26 patients and on the convexity in 16 patients. We compared the mean rate of curve progression without treatment, the age and curve size at spine surgery for the different types of spine deformities in patients with and without rib anomalies either simple or complex and found no significant difference (p> 0.05); the only statistical difference was that the mean age at surgery was higher for patients with a unilateral unsegmented bar without rib anomalies (p=0.005). Conclusion: Congenital rib anomalies and Sprengel’s shoulder occur most commonly on the concavity of a thoracic or thoracolumbar congenital scoliosis due to a unilateral failure of vertebral segmentation. However, these anomalies do not have an adverse effect on curve size or rate of progression

We report 12 consecutive cases of vertical scapular osteotomy to correct Sprengel’s deformity, performed during a 16-year period, with a mean follow-up of 10.4 years. The mean increase in abduction of the shoulder was 53°. The cosmetic appearance improved by a mean of 1.5 levels on the Cavendish scale. Neither function nor cosmesis deteriorated with time. We recommend the procedure for correction of moderate deformities with a functional deficit

Aim: Assessment of unilateral Sprengel’s deformity using CT scan with 3-D reconstruction in order to determine if there are sub-groups in which different procedures maybe appropriate. Materials and Methods: Between 1996 and 2002, 14 consecutive patients with unilateral Sprengel’s deformity were assessed using CT scanning with 3-D reconstruction. Size, shape, elevation and rotation of the scapulae and glenoid were measured. The incidence of omovertebral connections and congenital abnormalities were noted. A spiral CT scanner was used. Results: 3 of the 14 cases had clearly abnormal scapulae with widespread and multiple associated abnormalities. These were classified as the dysplastic group. The other 11 cases had wide variation in the elevation of the scapula or glenoid, the length of the supra-spinous portion and the rotation of the scapula and glenoid. There was only one case of a superior hook. The location of the tether could be determined from the shape of the medial border. It was noted that rotation was variable and elevation was variable. Conclusion: It was felt that no one procedure was appropriate for all scapulae, but the guiding factors included the elevation of the glenoid, the rotation of the glenoid, the location of the tether in addition to the clinical considerations. It was felt that these features were best evaluated using this 3-D CT scanning technique

A vertical scapular osteotomy was first described by Wilkinson in 1980. We report six children with a mean age of 9 years 6 months at operation (range 4–16). Mean abduction pre-operatively was 77 degrees (range 70–160 degrees). Cosmetically all were Cavendish grade three except one grade four. Five of the six had associated abnormalities of the cervical spine (three Klippel-Feil and one hemivertebra) and four had omovertebral bars. One boy had a full range of movement pre-op and had a cosmetic correction. One girl had a preceding Erbs palsy which had resolved completely prior to surgery. Mean follow-up is five years (range 1–12 years). All patients have an excellent cosmetic result, four graded Cavendish one, two graded two, and one grade three. Mean abduction improved to 148 degrees and mean improvement was 77 degrees. Sprengel’s deformity presents significant cosmetic and functional deficits. We have found the vertical scapular osteotomy as described by Wilkinson a simple and reliable procedure with predictably good results. With regards to the omovertebral bone, we concur that its presence has no influence on functional outcome. Cosmetically, when clothed, the result is excellent, with the shoulders level. Undressed, however, asymmetry is still obvious with a truncated shoulder girdle and persistence of some webbing or fullness in the base of the neck. This appears more marked when an omovertebral bone was present. We conclude that a vertical scapular osteotomy is a reliable operation for improving shoulder girdle function, but that cosmetic objectives must be reliable

In this outcome-based study, we reviewed the results of the modified Woodward procedure performed on 10 patients over the last 15 years in our unit. The indication for surgery was a unilateral Sprengel’s deformity, Cavendish grade II or III, in children aged 3 to 6 years. Follow-up times ranged from 1 to 15 years. The patients were assessed according to patient and relatives’ satisfaction, cosmesis and functional results. The modified Woodward procedure entailed a midline longitudinal incision over the spinous processes from C1 to T8. The origins of the trapezius and rhomboids were released from the spinous processes, the scapula lowered and derotated, the superomedial portion of the scapula resected and the trapezius and rhomboids reattached two vertebral levels lower. The clavicle was not osteotomised in any patient. A Velpeau sling was used for four weeks, after which physiotherapy was started. There were no brachial plexus complications. There were two cases of winging of the scapulae. One patient had a cosmetically ugly scar. Our results showed a cosmetic improvement by an average of one grade and a mean functional improvement of 30° of abduction and flexion. Those patients where an omovertebral body was found and resected had the best cosmetic and functional results. All the patients were satisfied with their operations. We feel that the pessimism regarding surgical results is unwarranted