Sprengel Deformity 

Updated: Oct 01, 2018
Author: Mihir M Thacker, MBBS, MS(Orth), DNB(Orth), FCPS(Orth), D'Ortho; Chief Editor: Harris Gellman, MD 

Overview

Background

Sprengel deformity is a complex anomaly that is associated with malposition and dysplasia of the scapula.[1, 2, 3, 4, 5] This condition also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity is the most common congenital malformation of the shoulder girdle.[6] The female-to-male ratio is 3:1.

In 1863, Eulenberg first described what later became known as Sprengel deformity.[7] Two decades later, Willet and Walsham reported two cases with anatomic descriptions of this clinical entity.[8] Sprengel then described four cases of upward displacement of the scapula in 1891.[9] Kolliker, who also described four cases in 1891, gave the condition its eponym, Sprengel deformity.[10] Multiple case reports and surgical techniques followed in the literature for Sprengel deformity (also referred to as congenital elevation of the scapula).

For patient education resources, see Spina Bifida and Scoliosis.

Anatomy

Some vital structures are at risk during the extensive dissection that is required as part of the relocation procedure. These structures include the following[11] :

  • Dorsal scapular nerve
  • Spinal accessory nerve
  • Suprascapular nerve

The dorsal scapular nerve courses close to the superomedial border of the scapula in the plane between the rhomboid and the erector spinae. The dorsal scapular nerve remains anterior to the serratus anterior and the subscapular muscles.

There exists a risk of injuring the dorsal scapular nerve during dissection of the periscapular muscles at the superomedial angle of the scapula, and when the trapezius and rhomboid muscles are reflected off as a single unit from the spine in the Woodward procedure (see Treatment). Therefore, staying subperiosteal during the process of freeing the periscapular muscles is essential, especially at the superomedial angle of the scapula.

The spinal accessory nerve is located between the trapezius and rhomboid muscles and therefore is theoretically at risk; however, because this nerve is sandwiched between the two muscles, it is rarely ever injured when these muscles operate as a unit.

The suprascapular nerve runs in the suprascapular notch of the scapula and may be injured if the dissection is carried too far laterally when the superior portion of the scapula is resected. By staying at least 1 cm medial to the notch, injury to the nerve during the procedure can be avoided.

Pathophysiology

Despite the work of Engel (bleb theory), Oxnard, and Ogden et al, a satisfactory explanation for the pathogenesis of the Sprengel deformity is yet to be derived.[3, 12, 13, 14]

Grossly, the scapula is dysplastic and is located higher than normal in the neck or upper thoracic region. This bone is smaller than normal in the vertical plane and appears larger horizontally. The inferior angle is rotated medially, causing the glenoid to face inferiorly.

An inverse correlation exists between the superior displacement and rotation of the scapula; with a higher scapula, the rotation is decreased. Convexity of the upper (supraspinous) portion of the scapula is increased and curvature of the clavicular shaft is decreased, forming a narrower scapuloclavicular space, which may contribute to brachial plexus compression postoperatively.

An omovertebral connection, which may be fibrous, cartilaginous, or bony, may exist in about one third of cases.[1, 6] This connection attaches the superomedial angle of the scapula to the spinous process, lamina, or transverse process of the cervical vertebrae and may be the primary cause of restricted shoulder motion in patients with a Sprengel deformity.[15]

The omovertebral connection is usually unilateral, is always associated with a fixed, elevated scapula, and has a major role in determining the shape and the malpositioning of the scapula.[16, 17] According to Willet and Walsham, the omovertebral bar is homologous to the suprascapular bone in lower vertebrates.[8]

The spinoscapular muscles may be fibrotic and contracted; the trapezius is the muscle most commonly affected.

Etiology

Genetics

The condition is sporadic. Rarely, it may run in families (autosomal dominant pattern of inheritance).[18, 19]

Embryology

The scapula is a cervical appendage that normally differentiates opposite the fourth, fifth, and sixth cervical vertebrae at about 5 weeks' gestation.[20] This structure normally descends to the thorax by the end of the third month of intrauterine life; any impediment to its descent results in a hypoplastic, elevated scapula, known as the Sprengel deformity.

Congenital elevation of the scapula is caused by an interruption in the normal caudad migration of the scapula. This produces both cosmetic and functional impairment and probably occurs between weeks 9 and 12 of gestation.

An arrest in the development of bone, cartilage, and muscle also occurs. The trapezius, rhomboid, or levator scapulae may be absent or hypoplastic or may contain multiple fibrous adhesions. The serratus anterior may be weak, leading to winging of the scapula. Other muscles, such as the pectoralis major, the latissimus dorsi, or the sternocleidomastoid, may be hypoplastic and similarly involved.

Associated malformations are almost always present with a Sprengel deformity. These can include anomalies in the cervicothoracic vertebrae or the thoracic rib cage. The most common anomalies are absent or fused ribs, chest-wall asymmetry, Klippel-Feil syndrome, cervical ribs, congenital scoliosis, and cervical spina bifida. When scoliosis is present, the most common curves are in the cervicothoracic or upper thoracic region. A relationship between a Sprengel deformity and diastematomyelia has also been shown.

Another anomaly, seen in about one third of these patients, is the omovertebral bone. This is a rhomboid- or trapezoid-shaped structure of cartilage or bone that usually lies in a strong fascial sheath, which extends from the superomedial border of the scapula to the spinous processes, lamina, or transverse processes of the cervical spine (most commonly C4-7). A well-developed joint can form between this bone and the scapula; the bone can also be a solid osseous bridge. The omovertebral bone is best visualized on a lateral or oblique radiograph of the cervical spine.

Prognosis

Prognostic factors include the following:

  • Severity of the deformity
  • Age at surgery - Generally, results of surgery in children older than age 6 years are not as good
  • Type of procedure - Relocation surgeries have better functional outcomes
  • Associated anomalies - Anomalies such as Klippel-Feil syndrome compromise the eventual result
 

Presentation

History and Physical Examination

The hallmarks of the Sprengel deformity are shoulder asymmetry and restriction of shoulder abduction. Clinically, the affected scapula usually is elevated 2-10 cm and is adducted, and its inferior pole is rotated medially. Because of this rotation, the glenoid faces inferiorly.

A prominence in the suprascapular region is characteristic because of the upwardly rotated superomedial angle of the scapula, which causes the ipsilateral side of the neck to appear fuller and its normal contour to be lost. The scapula is hypoplastic, and the length of the vertebral border is decreased. Occasionally, some anterior bending of the supraspinous portion is present.

Passive movement of the glenohumeral joint, including abduction and external and internal rotation, may be normal. However, scapulothoracic movements may be severely limited. In 40% of patients with a Sprengel deformity, combined abduction is limited to less than 100º. The omovertebral bone may also limit abduction by affecting scapular mobility, and it can also limit neck movement if it is attached high in the cervical spine. Other causes of limited abduction include abnormal and weakened scapular muscles.

The left side is more commonly affected than the right side is. The condition may sometimes be bilateral, in which case it is functionally more disabling, albeit much more cosmetically acceptable.

Problems that may be associated with Sprengel deformity include syndromes such as the following:

These syndromes are extremely rare, with the possible exception of the Klippel-Feil syndrome (see the image below).

Clinical photograph of a child with Sprengel defor Clinical photograph of a child with Sprengel deformity and Klippel-Feil syndrome.

Classification

On the basis of its severity, a Sprengel deformity can be classified according to the Cavendish grading system as follows[4] :

  • Grade 1 (very mild) - The shoulders are almost level, and the deformity cannot be noticed with the clothes on
  • Grade 2 (mild) - The shoulders are almost level, but the superomedial portion of the high scapula is visible as a lump
  • Grade 3 (moderate) - The deformity is visible, and the affected shoulder is elevated 2-5 cm higher than the opposite shoulder
  • Grade 4 (severe) - The scapula is very high, with the superomedial angle at the occiput, with neck webbing and brevicollis

This classification, however, is difficult to apply in bilateral cases.

 

Workup

Imaging Studies

Radiography

The Sprengel deformity is best visualized on an anteroposterior (AP) view of the chest and both shoulders (see the image below). A lateral view of the cervical and thoracic spine must also be obtained to rule out associated spinal anomalies.

Posteroanterior chest radiograph. This image depic Posteroanterior chest radiograph. This image depicts bilateral Sprengel deformities.

The scapular displacement can be measured by using the method described by Leibovic et al (see the image below).[33] On an AP radiograph of the chest, three lines are drawn as follows:

  • Line 1 – From the midpoint of the acromioclavicular joint to the midpoint of the sternoclavicular joint
  • Line 2 – From the midpoint of the acromioclavicular joint to the inferior angle of the scapula
  • Line 3 – A vertical line along the spinous processes of the vertebrae
Photo illustrating the Leibovic method for determi Photo illustrating the Leibovic method for determining scapular rotation and position. ISA = inferior scapular angle; Line 1 = line drawn from the midpoint of the acromioclavicular joint to the midpoint of the sternoclavicular joint; Line 2 = line drawn from the midpoint of the acromioclavicular joint to the ISA; Line 3 = vertical line drawn along the spinous processes of the vertebrae; SSA = superior scapular angle.

The superior scapular angle (SSA) is the angle between lines 1 and 2. The inferior scapular angle (ISA) is the angle between lines 2 and 3. These angles give the clinician an idea about the scapular rotation.

As the scapula is derotated back toward normal, the SSA increases and the ISA decreases. The caudad displacement of the scapula is measured by a line drawn from the center of the acromioclavicular joint perpendicular to line 3. The vertebral body at which this intersects provides an idea regarding the level of the scapula. Because this result is not a numeric value, it is not affected by growth. However, the SSA, ISA, and the level of the scapula are measured preoperatively and compared with the postoperative follow-up values.

CT and MRI

Computed tomography (CT) with three-dimensional (3D) reconstruction may be performed to visualize the pathoanatomy of the affected region and to visualize the omovertebral bar.[34] CT may also help in planning surgery (eg, if the scan shows that the height-to-width ratio is markedly decreased, then the prominent convexity of the vertebral border along with the supraspinous portion of the scapula should be resected).[17]

Magnetic resonance imaging is currently employed in this setting as well.[35]

Appropriate imaging studies should also be performed for any associated anomalies.[36]

 

Treatment

Approach Considerations

Indications for surgical intervention of a Sprengel deformity include significant cosmetic concerns and significant restriction of shoulder abduction in children younger than age 6 years.

The presence of a mild deformity with minimal restriction of movement is a contraindication for surgery. Although treatment of the Sprengel deformity is essentially surgical, some factors exist that could compromise the results of surgery and, thus, may be considered contraindications. These factors include the presence of associated syndromes that affect the final functional outcome.

Mears described a novel approach that included an oblique plane osteotomy of the scapular body, along with release of the long head of the triceps from the scapula.[37]  He reported a significant improvement in function following this procedure.

Surgical correction in older patients (>8 years) is controversial, and the results of surgery are not as good. However, in a study by Doita et al, the authors had good results after surgical correction in two adults, and they recommended surgery even in older patients.[15]

Nonoperative Therapy

Nonoperative treatment for the Sprengel deformity consists of physical therapy. Exercises are used to maintain an individual's range of motion (ROM) and to strengthen the weak periscapular muscles.

Surgical Therapy

Many patients with the Sprengel deformity do not require operative intervention. For those who do require surgery, the aims in the correction of this condition are twofold. First, the cause of the scapular binding must be released. Second, the scapula must be relocated.

The main objectives in performing surgery are to improve the cosmetic appearance and contour of the neck and to improve the scapular function when it is severely impaired. The optimal age for operative intervention is controversial; however, most authors would recommend that surgery be performed when patients are younger than 8 years in order to obtain the best surgical result.

Surgical options

Surgical options include the following[38, 39, 40, 41] :

  • Subperiosteal resection of part of the scapula
  • Extraperiosteal release
  • Transplantation of the muscular origins of the scapula
  • Excision of the superomedial portion of the scapula
  • Vertical scapular osteotomy

Clavicle resection and excision of the omovertebral bone have also been described. Many of these procedures leave unsightly scars; therefore, the cosmetic improvement must be considered carefully. The ability to increase shoulder abduction with surgery is also limited.

Preparation for surgery

It is extremely important to explain the expected outcome of the surgery to the patient's parents and to ensure that they have realistic expectations for surgical treatment. Parents must be told that whereas cosmesis may be improved, the improvement in the patient's ROM may be limited.

Before surgery, certain factors should be considered, including the cosmetic severity, the functional impairment, the age of the patient, other congenital anomalies, and the medical fitness of the patient to undergo the surgery. These factors are important because they ultimately determine the postoperative outcome.

Preoperatively, radiographs of both shoulders, including the cervical and thoracic spine, should be obtained to determine the presence of congenital scoliosis, Klippel-Feil syndrome, or an omovertebral bone. Furthermore, computed tomography (CT) or magnetic resonance imaging (MRI) may be useful to delineate the attachments of the omovertebral bone or to determine the presence of spina bifida occulta or an intraspinous lesion.

Operative details

Although multiple surgical procedures are described in the literature, the Green scapuloplasty and the Woodward procedure remain the criterion standards for correction of the Sprengel deformity.

Modified Green scapuloplasty

The modified Green scapuloplasty procedure usually is performed for a moderate or severe deformity.[42, 43]

The patient is placed in the supine position on a radiolucent table. A supraclavicular incision is made 2 cm cephalad to the midportion of the clavicle, in line with the skin creases. The deep fascia is incised, and the periosteum of the clavicle is divided longitudinally. The underlying subclavian vessels and brachial plexus must be protected carefully. The anterior cortex of the middle third of the clavicle is sectioned with an oscillating saw. Gentle force is then used to produce a greenstick fracture. The periosteum is then closed.

Next, the patient is turned to the prone position. A midline incision is made from C4 to T10. A plane is developed between the subcutaneous tissues and the fascia underlying the trapezius. Dissection proceeds laterally to expose the spine of the scapula. The insertion of the entire trapezius onto the scapular spine is sectioned and tagged. The trapezius is reflected medially. Care must be taken not to injure the spinal accessory nerve. The supraspinatus is then detached extraperiosteally to the greater scapular notch. The transverse scapular artery and the suprascapular neurovascular bundle must be protected.

The omovertebral bar is then excised. The scapular attachment is sectioned first. The omovertebral bar is then gently detached from its insertion to the cervical spine. The insertions of the levator scapulae and rhomboid muscles are dissected extraperiosteally, divided, and tagged. Starting medially, the subscapularis is elevated extraperiosteally. The suprascapular neurovascular bundle is protected, and the supraspinous portion of the scapula, along with its periosteum, is excised.

The scapular attachments of the latissimus dorsi are divided extraperiosteally. Blunt dissection is used to create a large pocket in the superior part of the latissimus dorsi. Fibrous bands may connect the scapula to the chest wall; these should be divided in order to mobilize the scapula. The scapula is then displaced distally. To prevent migration, the inferior pole of the scapula is fixed to the adjacent ribs. If winging is present, the scapula can be fixed to the rib cage in a lower and more laterally rotated position.

The muscles are reattached in the following order:

  • Supraspinatus to the base of the scapular spine
  • Subscapularis to the vertebral border of the scapula
  • Serratus anterior to the vertebral border
  • Levator scapulae to the superior border
  • Rhomboid muscles to the medial border
  • Trapezius to the scapular spine
  • Superior edge of the latissimus dorsi to the inferolateral edge of the trapezius

The wound is then closed in layers.

Woodward procedure

The Woodward procedure is also performed for a moderate or severe Sprengel deformity.[44, 45, 46]

The patient is placed in the prone position. A midline incision is made from C1 to T9. The wound is dissected laterally to the medial border of the scapula. The lateral border of the trapezius is identified. The lower portion of the trapezius is dissected from the latissimus dorsi. The origin of the trapezius is detached from the scapular spine, and the edges are tagged. The origins of the rhomboid muscles are divided and tagged. The entire muscle sheet is retracted laterally, exposing the omovertebral bar, which is excised extraperiosteally.

The levator scapulae is sectioned at its attachment to the scapula. Fibrous bands may attach the scapula to the chest wall; these should be sectioned. The serratus anterior must be detached from its insertion in the vertebral border of the scapula. The supraspinatus and the subscapularis are elevated extraperiosteally.

The supraspinous portion of the scapula is resected with its periosteum. Care is taken to avoid injury to the suprascapular nerve and vessels. The scapula is then lowered to the desired position. The subscapularis is reattached to the vertebral border, and the supraspinatus is sutured to the scapular spine. The serratus anterior is reattached to the vertebral border, and the latissimus dorsi is reattached to the scapula. The trapezius and the rhomboid muscles are then resutured to the spinous processes at a more distal level.

The wound is then closed in layers.

The Woodward procedure has also been performed endoscopically.[47]

Postoperative Care

Postoperatively, the arm is supported with a sling (for 3 weeks), and gentle ROM (active and passive) and strengthening exercises are gradually started. Physical therapy is continued for up to 6 months.

Complications

Postoperative complications include the following:

  • Winging of the scapula that may result from incomplete reattachment of the serratus anterior
  • Keloid formation, which may complicate wound healing

Long-Term Monitoring

The patient is seen monthly for the first 3 months, every 3 months subsequently for the remainder of the first year, and yearly thereafter. Scapular appearance, function, and motion, and general patient satisfaction are assessed at each visit. The appearance of the surgical scar, scapular symmetry, presence and degree of winging, scapular ROM, muscle bulk, and strength are measured. Radiographs and clinical pictures are obtained for comparison.