Abstract
Background:
Most patients with congenital shoulder girdle abnormalities receive treatment in childhood, with limited treatment reports in older populations. The aim of this study was to describe the surgical treatment and outcomes for adolescents and adults with Sprengel's deformity (SD).
Methods:
A retrospective review was conducted on patients treated for SD, a congenital shoulder girdle abnormality, by a single surgeon between 2011 and 2018. Patient demographics, surgical findings, procedures, complications, active range of motion, visual analog scale (VAS) pain scores, Single Assessment Numeric Evaluation (SANE), and 5-point Likert scale satisfaction were recorded. Univariate statistics were used to compare preoperative and postoperative outcomes.
Results:
Fourteen patients with an average age of 23.9 ± 10.1 years and a mean follow-up of 5.4 years (range 1-9 years) were included for analysis. All patients had unilateral pathology. Mean VAS pain scores improved from 6.3 ± 2.6 to 1.2 ± 0.9 (p < 0.001). The SANE score improved from 36.8% ± 9.6% to 77.5% ± 6% (p < 0.001). Average postoperative satisfaction was 4.8 ± 0.4. Forward elevation improved from 97° ± 18.1° to 137° ± 14° (p < 0.001), while abduction, external rotation, and internal rotation remained similar. Surgical treatments included reattachment of the lower trapezius to its anatomical insertion (N = 13), latissimus dorsi transfer to the medial scapular spine (N = 13), medial scapular border resection (N = 12), split pectoralis major transfer (N = 12), rhomboid and/or levator scapulae advancement (N = 12), anlage excision (N = 6), excision of a coracoclavicular ligament bony bridge (N = 1), and upper serratus advancement to the superomedial scapular border (N = 1). Only 1 patient underwent scapulothoracic fusion.
Conclusion:
In children, treatment of SD focuses on scapular distalization due to greater soft-tissue plasticity, while in older individuals, this was unfeasible due to stiffer soft-tissue and multiple periscapular muscular deficiencies. This series demonstrates treatment strategies in older patients, involving osseous resections and tendon transfers, resulting in significant improvements over a mean 5.4-year follow-up. Given the rarity of SD in older populations, multicenter studies are warranted to further validate this approach.
Level of Evidence:
Case Series; Level IV. See Instructions for Authors for a complete description of levels of evidence.
Introduction
Sprengel's deformity (SD) is a shoulder girdle anomaly caused by abnormal mesodermal differentiation, resulting in an undescended scapula from its embryonic position near the 4th and 5th cervical levels1. SD is typically diagnosed and treated in childhood due to its visible cosmetic deformity and functional limitations2. Approximately one-third to one-half of patients with SD have an omovertebral bone, or “anlage,” connecting the scapular superomedial border to the cervical spine, which may be osseous, cartilaginous, or fibrous (Fig. 1)1. This tethering can lead to pain and restricted scapular motion, especially during forward elevation and abduction. Periscapular muscle deficiencies, such as absence or shortening of the trapezius, rhomboids, and levator scapulae, further limit scapular motion3,4.
Fig. 1.
Fig. 1-A Computed tomography scan showing Sprengel’s deformity with bony anlage from a 36-year-old man (Fig. 1-B) Subtracted computer tomography scan showing widened, abnormal scapular morphology.
Traditionally, pediatric SD treatment is based on the severity and position of the scapula per Cavendish criteria2. Treatment often involves removing any tethering anlage, scapular ostectomy, and tendon advancements to improve cosmesis and function. Established techniques include the Green, Woodward, Mears, and McFarland procedures (see Appendix 1)5,6,7,8,9,10,11. These procedures are typically performed between ages 3 and 8, when soft-tissue pliability aids outcomes12. In children younger than 8 years, correction rates reach 55.3%, compared with 37% in older patients11. Evidence on SD treatment beyond childhood is limited, mainly to case reports12,13,14,15.
In children, distalization is feasible due to soft-tissue plasticity12,13,14,15. In adults, however, stiffer tissues increase complications such as brachial plexus injury. For older patients, our approach emphasizes (1) removal of tethering sites, (2) reshaping ostectomy, and (3) periscapular muscle tendon transfers (MTTs) without scapular distalization, recreating force vectors for scapular stability and impingement-free motion (Table I). This study describes individualized surgical treatments of adolescents and adults with SD, tailored to specific findings in each case. We hypothesized that this approach, addressing tethering sites, reshaping the scapula, and performing MTTs, would yield significant improvements in pain, patient-reported outcomes, satisfaction, and range of motion (ROM).
TABLE I.
Summary of the Proposed Procedures for Sprengel's Deformity in Adolescents and Adults
| Techniques | Consideration |
|---|---|
| Anlage resection | An omovertebral bar, which can consist of fibrous, cartilaginous, or osseous tissue, connects the scapula to the vertebral column. Resecting this bar facilitates the restoration of scapular mobility |
| Medial border resection | Sprengel's deformity is frequently associated with an enlarged medial scapular border, which impinges on the vertebral column during arm elevation when the scapula is protracted. Resection of this border helps restore scapular mobility and improves overall shoulder motion |
| Muscle tendon transfers and advancements | Sprengel's deformity is often associated with shortened or absent periscapular muscle attachments, which limit scapular mobility. To address this, the following tendon procedures are commonly used to substitute for the deficient periscapular muscles Tendon transfers • Latissimus dorsi transfer to reconstruct the deficient upper and middle trapezius • Split pectoralis major transfer to reconstruct the deficient serratus anterior Tendon advancement • Abnormal insertions of the trapezius, rhomboids, or levator scapulae on the scapula are corrected by reattaching these tendons to their proper anatomical position, restoring normal function |
| Scapulothoracic fusion | This is the ideal option when there is a combined deficiency of the trapezius and serratus anterior |
Materials and Methods
Study Design
This case series was performed through a retrospective chart review of adolescent and adult patients with untreated SD who underwent surgical treatment. All procedures were performed by a single surgeon experienced in scapular pathologies and tendon transfers at an academic medical center between 2011 and 2024.
Patient Selection
Patients included in this case series were 15 years or older with a confirmed diagnosis of SD and underwent surgical treatment. The diagnosis of SD was established clinically through physical examination, radiographic evaluation, and advanced imaging. All patients with untreated SD presented with marked deformity, limited ROM, and pain despite nonoperative treatment, making them operative candidates.
During the physical examination, all patients were evaluated in 4 key stages (see Appendix 2). First, a general assessment identified cranial, neck, spinal, and chest abnormalities, as well as any distal limb deficiencies. Second, a focused shoulder girdle inspection was conducted to assess the scapula's position relative to the contralateral scapula, noting the prominence of the scapular superomedial border and the palpable presence of an omovertebral bar (anlage) connected to the cervical spine. Third, functional shoulder and scapular motion were assessed to identify scapulothoracic abnormal motion (STAM) (Fig. 2), characterized by winging or reduced movement. If STAM was present, comprehensive muscle testing was performed to identify which muscle group was responsible. Scapular motion and the scapular repositioning test (SRT) during shoulder motion were used to determine if the scapula was fixed or mobile. The SRT was performed by retracting the scapula with one hand placed on the acromioclavicular joint, while the other hand's palm and thumb base were positioned along the scapular spine to retract and medialize the scapula (Fig. 3). This maneuver is possible only if the scapula is not tethered16. Fourth, periscapular musculature was assessed using manual strength testing based on the Medical Research Council scale (0-5). Palpation supplemented strength testing, particularly for deep periscapular muscles such as the pectoralis major (PM) and latissimus dorsi (LD), to assess muscle contraction and bulk. The upper trapezius (UT) was evaluated with a shoulder shrug, and if absent, the levator scapulae (LS) were assessed by placing the patient's arm behind the back while elevating the elbow. An intact LS would be visible and palpable during this maneuver. The middle and lower trapezius (MT and LT) were assessed during resisted scapular retraction, and if absent, the rhomboids were examined by visualizing their contraction with resisted scapular retraction; rhomboid absence was indicated by palpable ribs. The serratus anterior (SA) was best evaluated using resisted protraction or the shoulder flexion resistance test, raising the arm in forward elevation while the examiner applied a downward force on the forearm as a break test (Fig. 4)17. The LD was assessed through resisted arm extension and internal rotation from a 90° elevation position, along with palpation of the posterior axillary fold. The PM was examined by observing the bulk and contraction of its sternal and clavicular heads, and its strength was tested through resisted arm adduction.
Fig. 2.
Clinical photograph demonstrating scapulothoracic abnormal motion involving the right scapula, which can be discovered during repetitive shoulder range of motion.
Fig. 3.
Clinical photograph demonstrating the scapular repositioning test to ascertain scapular mobility and improvement with normal positioning of the scapula.
Fig. 4.
Clinical photograph demonstrating the shoulder forward flexion test to examine the serratus anterior.
Imaging is crucial for evaluating the osseous deformity of the scapula and plays a vital role in preoperative planning. While radiographs can provide some insight into the deformity, computed tomography with 3-dimensional reconstruction of the scapula, chest, and cervical and thoracic spine is the preferred diagnostic modality for accurately assessing abnormal scapular borders and identifying any anlage that may require resection (Fig. 1).
Variables
Demographic variables included age at the time of surgery, sex, laterality of the condition, body mass index, smoking status, prior ipsilateral surgery, hand dominance, and follow-up period in years. Patient outcome measures included preoperative and postoperative visual analog scale (VAS) scores for pain, the Single Assessment Numeric Evaluation (SANE), ROM, satisfaction, surgical complications, and STAM recurrence by physical examination. The SANE involved asking patients to rate their shoulder from 0% to 100%, with 100% being normal. ROM was recorded in forward elevation (FE), abduction, external rotation (ER), and internal rotation (IR) using a goniometer by the senior author. IR was graded using a 14-point scale16, with a score of 1 indicating IR to the abdomen and increasing by 1 point for each level up to T7. Postoperative satisfaction was recorded on a 5-point Likert scale, with a maximum score of 5 indicating high satisfaction. Intraoperative findings and associated surgical corrective procedures were recorded after a retrospective review of the operative reports.
Statistical Analysis
Continuous variables were reported with means and standard deviations, while dichotomous variables were reported as proportions. The 2-group t-test or Mann-Whitney U test was used to compare continuous variables, whereas the χ2 or Fisher's exact test was used to compare proportions, depending on the normality of the data. A p-value of < 0.05 was considered statistically significant. Data analysis was performed using Stata (StataCorp. 2023. Stata Statistical Software: Release 18: StataCorp LLC).
Results
Demographic and Preoperative Data
A total of 14 patients received treatment of their SD and were included in the study. The majority of patients were female (N = 9/14; 64%). Five (36%) were adolescents (mean age 16 years ± 0.9), and 9 (64%) were adults (mean age 28.2 years ± 10.3). All patients had unilateral SD. Patient demographics are summarized in Table II. The clinical symptoms in all 14 patients included limited shoulder ROM, shoulder pain, and cosmetic deformity.
TABLE II.
Demographic and Preoperative Variables for Patients Operatively Treated for Sprengel's Deformity*
| Demographics Variable | |
|---|---|
| Mean age in yrs ± SD | |
| Total | 23.9 ± 10.1 |
| Adolescents | 16 ± 0.9 |
| Adults | 28.2 ± 10.3 |
| Sex (%) | |
| Female | 9 (64.3) |
| Male | 5 (35.7%) |
| Body mass index ([kg/m2] ± SD) | 21.5 ± 2.6 |
| Follow-up (yrs ± SD) | 6.9 ± 1.9 |
| Prior surgery (%) | 0 |
| Smoking (%) | 0 |
| Preoperative VAS pain ± SD | 6.3 ± 2.6 |
| Preoperative SANE (% ± SD) | 36.9% ± 9.6% |
| Mean range of motion in degrees ± SD | |
| Preoperative forward elevation | 98° ± 18° |
| Preoperative abduction | 93° ± 13 |
| Preoperative external rotation | 53° ± 5° |
| Preoperative internal rotation | 5 ± 1 (L4) |
SANE = Single Assessment Numeric Evaluation, SD = standard deviation, and VAS = visual analog scale.
Examination Findings
All 14 patients had an elevated and medially positioned scapula. An anlage was palpable in 6 patients, while 3 patients had a prominent superior medial border causing discomfort at 90° of passive motion. The remaining 4 patients had no palpable anlage or prominent superior medial border. Scapular retraction and passive mobility were limited in the 6 patients with bony anlage tethering.
One patient had associated Poland syndrome (PS) with hypoplasia of the PM on the affected side. All other evaluated patients had normal PM function. Dysfunction of the SA was identified in 7 out of 14 patients. The UT appeared atrophic in all cases, but the MT and LT demonstrated limited function in 2 cases, one of which involved the patient with PS, who also had nonfunctional rhomboids. All other 13 patients had functioning rhomboids. LD function was normal in all 14 patients. Neurovascular function was grossly intact in all patients, with no motor deficits in the ipsilateral arm.
Operative Findings and Procedures
Intraoperative evaluation included the presence or absence of a tethering anlage, characterization of scapular osseous deformities, and muscle evaluation. Muscles were assessed for their insertion location, quality (e.g., color and consistency), and contractility using a sterile handheld stimulator (Checkpoint Surgical). Table III summarizes the intraoperative findings and corresponding procedures, providing our recommended approach to the surgical management of late-presenting SD. Surgical procedures were designed to address osseous abnormalities and periscapular muscle deficiencies to prevent STAM and improve shoulder ROM without focusing on scapular distalization.
TABLE III.
Intraoperative Findings and Surgical Corrections for Patients With Late-Presenting Sprengel's Deformity
| Intraoperative Findings | Surgical Correction |
|---|---|
| Osseous deformity, N (%) | |
| Anlage: 6 (43%) | Anlage excision |
| Widened, abnormal scapula: 12 (86%) | Medial scapular border resection |
| Coracoclavicular bony bridge: 1 (7%) | Excision coracoclavicular ligament bony bridge |
| Periscapular muscle deformity, N (%) | |
| Trapezius | |
| Lower trapezius abnormal insertion: 13 (93%) | Reattaching the lower trapezius to its anatomical insertion on the scapular spine |
| Deficient upper/middle trapezius: 13 (93%) | Latissimus dorsi transfer to medial scapular spine/medial border scapula |
| Deficient distal serratus anterior: 12 (86%) | Split pectoralis major transfer |
| Deficient/shortened rhomboids and/or levator scapulae: 12 (86%) | If any of the muscles were present but shortened, it was advanced laterally to the scapular spine as much as possible |
| Poland syndrome | |
| Pectoralis major deficiency with atrophic upper serratus anterior: 1 (7%) | Upper serratus advancement to superomedial scapular border. The serratus anterior could not be addressed with a transfer due to the concomitantly deficient pectoralis major |
| Combined fatty atrophy trapezius, rhomboid, serratus anterior: 1 (7%) | Scapulothoracic fusion |
Of the 14 patients with osseous deformities, an anlage was identified in 1 adolescent and 5 adult patients (n = 6/14; 43%), all of whom underwent anlage resection (Fig. 5). Most patients (n = 13/14; 93%) exhibited abnormal scapular morphology characterized by a widened scapular body extending from the scapular spine to the distal pole. Patients with exaggerated medial border curvature underwent a partial scapulectomy to restore the medial scapular border's contour. In addition, 1 adult patient with an anlage had an aberrant coracoclavicular bony bridge, which was excised.
Fig. 5.
Photograph demonstrating a resected bony anlage (i.e., omovertebral bar) from a 36-year-old man.
Periscapular muscle deficiencies were common across the cohort. The UT and MT were deficient in 93% of patients (n = 13/14), while the LT had an abnormal insertion in the same proportion. Rhomboid and LS muscles were shortened in the majority (n = 12/14; 86%), and the distal SA was deficient in 86% of cases (n = 12/14). Relevant MTTs were used to address these deficiencies, as such most patients had at least 2 tendon procedures except for 1 patient who underwent a scapulothoracic (ST) fusion due to complete periscapular muscle deficiency, including the trapezius, SA, rhomboids, and LS. This patient had no preoperative diagnosis of facioscapulohumeral dystrophy or other dystrophic conditions.
For trapezial deficiencies, the triple tendon transfer (T3) procedure was not used in most cases, as the rhomboids and LS were abnormal and unsuitable for lateral transfer. In 13 of 14 patients (93%), the LT's abnormal insertion was reattached to its anatomical location on the scapular spine. In these same 13 patients, an LD transfer was also performed to the medial scapular spine to reconstruct the deficient UT and MT. For the 12 patients (86%) with shortened rhomboids and/or LS, lateral advancement along the scapular spine was performed to enhance muscle strength. In 12 patients (86%), a split PM tendon transfer was performed to address distal SA deficiency18. One adult patient with PS had a combination of abnormal scapular morphology and deficient MT, LT, and PM, along with a shortened upper SA. This patient underwent advancement of the upper SA to the superomedial border of the scapula to improve scapular adherence to the hemithorax during arm elevation and assist with scapular ER. Figure 6 demonstrates a combined split PM transfer and LD transfer for a combined deficient trapezius and SA.
Fig. 6.
Representative periscapular tendon transfers in a 45-year-old man with serratus anterior and rhomboid deficiency. Latissimus dorsi tendon insertion and split pectoralis major with bone block are labeled.
Outcome Measures
The average follow-up was 5.4 years ± 3.1. The average VAS pain score improved significantly postoperatively from 6.3 ± 2.6 to 1.2 ± 0.9 (p < 0.001). Similarly, the SANE score improved significantly from 36.8% ± 9.6% to 77.5% ± 6% postoperatively (p < 0.001). Postoperative patient satisfaction was 4.8 ± 0.4 out of 5 points (highly satisfied).
FE improved significantly from 97.5° ± 18.1° to 136.6° ± 14.4° postoperatively. By contrast, no significant improvement was observed in abduction (from 93° ± 13.4° to 101.6° ± 14°; p = 0.28), ER (from 53° ± 5° to 50° ± 8°; p = 0.35), or IR (from 5 ± 1 [L4-5] to 5 ± 1 [L4-5]; p = 1.0). No complications were recorded at the latest follow-up. Table IV presents the preoperative to postoperative outcome comparison at the latest follow-up.
TABLE IV.
Preoperative and Postoperative Outcomes for Patient-Reported Outcome Measures, Satisfaction Scores, Range of Motion, and Complications
| Outcome | Preoperative | Postoperative | p |
|---|---|---|---|
| VAS pain (mean points ± SD) | 6.3 ± 2.6 | 1.2 ± 0.9 | <0.001 |
| SANE (mean % ± SD) | 36.8% ± 9.6% | 77.5% ± 6% | <0.001 |
| Postoperative Satisfaction* (mean score ± SD) | — | 4.8 ± 0.4 | — |
| Range of motion (mean degrees ± SD) | |||
| Forward elevation | 97° ± 18° | 137 ± 14 | <0.001 |
| Abduction | 93° ± 13° | 101 ± 14 | 0.28 |
| External rotation at the side | 53° ± 5° | 50 ± 9 | 0.35 |
| Internal rotation up the back | 5 ± 1 (L4-5) | 5 ± 1 (L4-5) | 1.0 |
| Complications | None | None | — |
Maximum score for satisfaction is 5; SANE = Single Assessment Numeric Evaluation, SD = standard deviation, and VAS = visual analog scale.
Discussion
This series represents the largest study to date on untreated SD in adolescent and adult populations. In children, SD treatment often involves distalization due to greater tissue plasticity, which is unfeasible in older patients due to reduced soft-tissue pliability and atrophic musculature. Consequently, this study highlighted that SD treatment in adolescents and adults differs from pediatric strategies, focusing on osseous resections and functional MTTs to address soft-tissue deficiencies, reduce STAM, and improve ROM without scapular distalization.
Few case series have described SD treatment in adolescents or adults. Doita et al. reported on 2 adult patients with Klippel-Feil syndrome, aged 20 and 26 years, who underwent anlage and scapular superomedial border resection, improving ROM and cosmetic outcomes12. Gillespie et al. presented a case of a 25-year-old woman with untreated SD who underwent anlage resection and soft-tissue coverage13. Her primary complaints were neck and shoulder pain with restricted motion, and at 9-month follow-up, her FE improved from 110° to 150° and abduction from 90° to 150°, with pain resolution13. Ong et al. presented a case of a 17-year-old adolescent boy with SD who underwent a Woodward procedure with anlage resection, though function remained limited 3 years postoperatively due to late presentation15. Hadley reported a case of SD with PS, characterized by the absence of the PM and carpal coalitions, though no treatment was described19.
Soft-tissue deficiencies and muscular deformities in SD vary, especially in cases associated with congenital syndromes, making recognizing defective periscapular musculature critical for performing MTTs20. In our series, patients with trapezius and SA deficiencies showed significant outcome improvements after MTTs, with no recurrences at a 5.4-year follow-up. However, treating SD with congenital syndromes is challenging due to multiple muscle deficiencies, limiting MTT options. In our series, 2 patients with PS had multiple muscle deficiencies resulting in STAM. One patient had trapezius, SA, and PM deficiencies, while the other had combined trapezial, rhomboid, and SA deficiencies. In these scenarios, trapezial deficiency cannot be addressed with a T3 procedure, so an alternative is to transfer the LD to compress the scapula against the chest wall. In PS cases with SA deficiency, MTT options are limited due to concomitant PM deficiency. For globally deficient periscapular musculature without MTT options, ST fusion remains viable but should be avoided in pediatric patients.
Regarding osseous pathologies, anlage excision and medial scapular border resection should be performed when identified intraoperatively, as the anlage tethers the scapula abnormally to the spine. We resected the anlage and removed 2 to 3 cm of the medial scapular border in all cases with these deformities. In SD, the medial border often attaches to deficient rhomboid musculature or an aberrantly located LT tendon. To perform these resections, the MT and LT are elevated to access the LS and rhomboids. Once elevated, these muscles are excised from the medial scapular border to remove the deformities.
This study has limitations. Although the largest case series to date on older patients with SD, the sample size is small and follow-up was limited. In addition, we lacked a comparative group of patients managed nonoperatively, as all referred patients were indicated for surgery. Changes in cosmetic deformity from preoperative to postoperative follow-up were also unrecorded. ROM evaluations were performed by the senior author using a goniometer, introducing potential measurement bias.
Conclusion
This case series highlights that SD evaluation and treatment in adolescents and adults differ from pediatric approaches. In children, treatment leverages soft-tissue pliability for scapular distalization. In older patients, treatment involves osseous resections, such as anlage and medial scapular border removal, combined with MTTs for deficient periscapular musculature, leading to significant functional gains, pain reduction, and high patient satisfaction over a mean 5.4-year follow-up. Owing to the rarity of SD in older individuals, multicenter studies are recommended to further validate and refine this treatment approach.
Appendix
Supporting material provided by the author is posted with the online version of this article as a data supplement at jbjs.org (http://links.lww.com/JBJSOA/A757, http://links.lww.com/JBJSOA/A758). This content has not been copyedited or verified.
Footnotes
Investigation Performed at Massachusetts General Hospital, Boston, MA
Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSOA/A756).
Contributor Information
Ryan S. Lohre, Email: rlohre@mgh.harvard.edu.
Bassem T. Elhassan, Email: belhassan@mgh.harvard.edu.
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