Sprengel's Deformity

Key Points:

  • Caused by failure of scapular descent during fetal development
  • Results in elevated, dysplastic scapula
  • Associated with cervical spine and renal anomalies
  • Non-operative management for mild deformities
  • Operative management may improve function and cosmesis in severe deformities

Description:

Named after Otta Gerhard Karl Sprengel, a German surgeon, who described a case in 1891. Sprengel’s deformity is a relatively rare condition consisting of an elevated, dysplastic scapula that causes cosmetic deformity and restriction of shoulder range of motion. It is caused by failure of scapular descent during the 9th-12th weeks of gestation. Currently, the etiology is unknown but has been postulated to involve neural crest defects (Matsuda, 2005) or oligohydramnios (Horwitz, 1908).

Epidemiology:

The true incidence is unknown and, although the condition is rare, it is the most common congenital shoulder girdle deformity. It may be associated with cervical spine and renal anomalies.  A diagnosis of Klippel-Feil should be ruled out as 20-42% of patients with Klippel-Feil have Sprengel’s deformity (Hensinger 1974). It is also associated with rib deformities, scoliosis, spina bifida, and congenital muscular torticollis.

 

Clinical Findings:

Patients and parents note a deformity of the upper back with associated restriction of ipsilateral shoulder movement. It is present at the time of birth but cosmetic asymmetry and functional impairment are rarely noted before 1 year of age. Most commonly, the deformity is mild and unilateral but bilateral cases have been reported.  Cavendish’s classification is used to describe clinical findings (Table 1). It affects males and females equally. It is associated with an omovertebral connection which can be a fibrous or osseous connection between the cervical spine and scapula occurring 20-25% of the time (Cavendish, 1972). Cosmetic deformity and loss of shoulder function are common patient complaints.
 
Table 1: Cavendish’s Classification
Grade 1 No visible deformity, patient fully dressed
Grade 2 Bumpy aspect of superomedial angle
Grade 3 Asymmetric shoulder elevation, 2 to 5 cm
Grade 4 Asymmetric shoulder elevation, >5 cm

Imaging Studies:

Routine cervical spine and chest xrays should be completed as part of the evaluation. Rigault’s classification is used to describe radiographic findings. Additionally, radiographs should be assessed for omovertebral bones, cervical spine abnormalities and rib deformities. CT scans, including three-dimensional reconstructions (Yamada 2013), can provide information about the omoverbetral bone and scapula position. MRI scans are more useful to detect whether a fibrotic band of omovertebral tissue is present.
 
Table 2: Radiographic Rigault’s Classification
Grade 1 Superomedial angle lower than T2 but above T4 transverse process
Grade 2 Superomedial angle located between C5 and T2 transverse process
Grade 3 Superomedial angle above C5 transverse process

Etiology:

Treatment:

Typically noted in infancy or toddler years, treatment is generally non-operative. Surgical indications include shoulder range of motion restrictions, which cause functional impairment, or unacceptable cosmesis. Associated anomalies and comorbidities should be addressed prior to surgery. Preferred age of surgical correction is between 3 to 8 years. The classic procedure was described by Woodward and involves resecting the omovertebral attachments and superomedial corner of the scapula and then transferring the origin of the trapezius and rhomboids distally on the spinous processes. Other procedures, including the Green procedure, have also been described. Long term outcomes of both procedures have been published and describe improvement in shoulder range of motion by over 50° (Gonen 2010, Borges 1996). Consideration for clavicular osteotomy and/or intra-operative neuro-monitoring should be given in older patients and patients with more severe deformity to prevent postoperative brachial plexus injury.

Complications:

Expectations of the patient and parent must be carefully managed. Goals of non-operative treatment include maximizing strength, range of motion and function of the shoulder.  However, non-operative treatment does not correct the deformity. Complications of surgical intervention include continued deformity, hypertrophic/wide scars, scapular winging, brachial plexus injury, and recurrence of deformity.

References:

  1. Borges JL, Shah A, Torres B, Bowen JR. Modified Woodward Procedure for Sprengel Deformity of the shoulder: long-term results. Journal of Pediatric Orthopaedics.1996;16(4): 508-513.
  2. Cavendish M. Congenital elevation of the scapula. J Bone Joint Surg Am. 1952; 34A:883-92. 
  3. Dilli A, Ayaz UY, Dama C, et al. Sprengel Deformity: Magnetic Resonance Imaging Findings in Two Pediatric Cases. J Clinical Imaging Science. 2011; 1:1:17-20. 
  4. Gonen E. Simsek U, Solak S, et al. Long-term results of modified Green Method in Sprengtel╒s Deformity. J Child Ortho. 2010; 4:309-314. 
  5. Hensinger R, Lang JE, Macewen WP, Klippel-Feil syndrome-constellation of associated anomalies. J Bone Joint Surg Am. 1974; A56:1246-1253. 
  6. Horwitz E. Congenital elevation of the scapula-Sprengel╒s deformity. AM J Orthop Surg. 1908; S2-6-2:260-311. 
  7. Matsuda T. Alhlberg PE, Kessarls N, et al. Neural crest origins of the neck and shoulder. Nature. 2005; 436:347-355. 
  8. Yamada K, Suenaga N, Iwasaki N, et al. Correction in Malrotation of the Scapula and Muscle Transfer for the Management of Severe Sprengel Deformity: Static and Dynamic Evaluation using 3-Dimensional Computer Tomography. J Pediatr Orthop. 2013; 33:205-211. 

Figures and Tables:

 




 

Top Contributors:

Jennifer Beck MD