SPRENGEL’S SHOULDER

DEFINITION

Congenital elevation of the scapula or'Sprengel's shoulder' is an anomaly of the shoulder girdle that is associated with abnormal descent, and altered position and anatomy of the scapula. The deformity is usually associated with muscle hypoplasia or atrophy, and a combination of these factors results in disfigurement and functional limitation of the shoulder.

Developmental, Normal and Pathological Anatomy

The scapula develops embryologically along with the upper limb; itappears during the fifth week in the upperdorsal / lower cervicalregion with the arm bud and descends up to the final anatomical position of one of the second-to-eighth dorsal vertebrae by 12 weeks of gestation.

The trapezius inserts along the medial border of the scapula and resists the upward-directed forces of the levator scapulae and the rhomboids; it has been reported to be atrophied in cases of acquired elevation of the scapula. The other muscles acting on the scapula are pectoralis major, rhomboids, levator scapulae, serratus anterior and latissimus dorsi; varying degrees of involvement of these muscles may be seen in congenital elevation of the scapula.

The pathology in Sprengel's deformity probably represents a continuance of the fetal form of the scapula. The smaller deformed scapula has a horizontal diameter that exceeds the vertical diameter; anterior curving of the supraspinous portion with prolongation of the superior medial scapular angle has been described. Other pathoanatomical findings include an omovertebral bar, articulations with the vertebral column; and these may extend from the superomedial scapular angle or the upper third of the medial border of the scapula up to the transverse process of a cervical vertebra (one of the fourth-to-seventh vertebrae).

Additionally, costovertebral defects (spina bifida and kyphoscoliosis) and underdevelopment of pectoral girdle bones (clavicle, humerus) and musculature (pectoralis major, trapezius) may Coexist.

CAUSES

• Genetics The condition is sporadic. Rarely, it may run in families

(autosomal dominant pattern of inheritance).

• Embryology The scapula is a cervical appendage that normally differentiates

opposite the fourth,fifth, and sixth cervical vertebrae at about 5weeks'gestation.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 the 9th and 12th week of gestation. An arrest in the development of bone, cartilage, and muscle also occurs. The trapezius, rhomboid, or levator scapulae muscle may be absent, hypoplastic, or contain multiple fibrous adhesions. The serratus anterior muscle may be weak, leading to winging of the scapula. Other muscles, such as the pectoralis major, latissimus dorsi, or the sternocleidomastoid, may be hypoplastic and similarly involved.

Clinical Features

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 can also limit neck movement if this bone 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. The condition may sometimes be bilateral, in which case, although it is cosmetically much more acceptable, functionally, it is more disabling.

Figure below shows: (a) Cosmetic aspect of Sprengel's deformity is shown. The landmarks show marked elevation of the left scapula as compared with the right; (b) Functional aspect of Sprengel's deformity is shown. Marked restriction of abduction on the left side is seen as compared to the right

SPECIAL TESTS• Signs and Symptoms• Physical Exam Note the prominence of the scapula in the angle of the neck

from anterior and posterior aspects. Palpate the superomedial aspect of the scapula to check for

a bony connection (omovertebral bar) to the spine. Measure the ROM, especially abduction (raising up to side). Check neck ROM. Perform the spine-bending test to look for scoliosis. If the patient has congenital cervical fusions, test the hearing

because an increased risk of hearing abnormalities is possible.

Tests• LabTest results are normal.• ImagingRadiography:– On the cervical spine, look for associated

congenital anomalies.– On the thoracolumbar spine, rule out scoliosis.

In addition, ultrasound of the kidneys, ureter, and bladder is indicated because of the high incidence of associated anomalies.

• Pathological FindingsScapula:

– Smaller than normal– May be attached at its upper portion to the spinous processes

of the lower cervical or upper thoracic spine by a bar of bone or cartilage known as an omovertebral bar

– Upper portion is curved abnormally forward.– The muscles that normally attach the scapula are hypoplastic.

Multiple other congenital malformations of other systems may be associated, in random fashion such as:

Klippel- Feil(cervical fusions) syndrome, Myelomeningocele, Congenital scoliosis, Syringomyelia, Renal malformations,Limb malformations may each occur sporadically with this condition, or Sprengel deformity may occur in isolation.

TREATMENT• Physical Therapy Physical therapy is useful in non-operative cases and after surgery to

improve the range of abduction and to strengthen scapular muscles.• Surgery For patients who are unwilling to accept the degree of deformity or

limitation of abduction that Sprengel deformity produces, surgical relocation of the scapula is the only option.

Several techniques are used to accomplish this goal, all of which involve detaching the muscles from their origins or insertions .

• Results:– Noticeable improvement, but not restoration of appearance or function to

normal– Improved range of abduction– The incision on the back may tend to spread and become wider than

incisions in other areas.

• Follow-up• Prognosiso The deformity usually is static and does not improve or worsen with

time.o No evidence indicates that it causes arthritis of the shoulder, although

the affected side may be weaker than the contralateral side.• ComplicationsThe results of surgery usually are good, but complications include:

– Brachial plexus stretch– Weaknesses of the shoulder muscles– Incomplete correction– A wide incision scar

• Patient Monitoringo The family should bring the child in for several visits,6-12 months apart,

when trying to decide about surgery.o The best age for surgery is when the patient is 2-8 years old, although it

has been successfully done on both older and younger patients.

ICF TABLEACTIVITY LIMITATIONS

PARTICIPATION RESTRICTIONS

CAUSES INDICATORS TREATMENT PLAN

Activities related to scapula and scapulo-humeral joint motions are affected like reaching upward,catching something overhead using the affected side.

Playing with other children is restricted.

Restricted abduction of the shoulder.

Weakness of periscapular muscles.

ROM measurement(using goniometer).

MMT

To improve ROM of shoulder abduction:by active and passive stretching exercises.To strengthen muscles:strengthening exercises to scapular muscles like levator scapulae,rhomboids,serratus anterior,etc

REFERENCES

• http://www.orthopaedicclinic.com.sg/dictionary/sprengel-deformity/

• Sprengel’s Deformity, www.orthoseek.com• emedicine.medscape.com/article/1242896-treatment