Dr. Kevin Yip

Dr Kevin Yip
Orthopaedic Surgeon
MBBS(UK), FRCS(EDIN), FAM(SING), FHKCOS(ORTHO)

Featured on Channel NewsAsia

Sprengel Deformity

Basics
Description
  • Sprengel deformity:
    • Congenital elevation of the scapula
    • Small scapula with restricted ROM
    • Often, congenital anomalies coexist.
  • This condition:
    • Is present from birth
    • May be discovered at birth or after the child starts to use the arms
    • Usually is diagnosed within the 1st few years of life
  • Surgery is best performed in patients 2-8 years old, although satisfactory results have been reported as late as 14 years of age.
  • Synonyms: Undescended scapula; Congenital high scapula
Epidemiology
Incidence
Rare
Prevalence
  • <1 per 10,000
  • More common in girls than in boys, with a ratio of 3:1
Risk Factors
  • Myelomeningocele
  • Congenital cervical fusion
Genetics
  • It is almost always a sporadic condition.
  • Only a small number of familial cases have been reported in which the pattern was autosomal dominant.
Etiology
  • The normal scapula:
    • Appears in the 5th week of embryonic life, located in the neck, opposite the C5-T1 segments
    • Migrates distally to its position in the thoracic region
  • Therefore, Sprengel deformity is a failure of descent of the scapula.
    • Its cause is unknown.
    • It may be secondary to defective formation or later contracture of musculature.
    • 1 theory is that abnormally located blebs of cerebrospinal fluid interfere with scapular descent.
Associated Conditions
  • 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.
Diagnosis
Signs and Symptoms
  • Most commonly unilateral, but may be bilateral
  • The scapula:
    • Small and elevated
    • Rotated so the glenoid faces more downward than normal, placing the inferomedial pole closer to the spine and the superomedial pole farther from it
    • The superomedial pole is prominent in the base of the neck.
  • The angle of the neck on affected side may appear more blunted than that on the opposite side.
  • Variation occurs in the degrees of severity, from obvious to barely noticeable deformity.
  • Abduction of the arm is limited because the glenoid is turned downward and because the motion of the scapula is decreased.
    • Causes the patient to tilt the trunk when reaching upward; this motion often is the 1st to bring the diagnosis to light.
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
Lab
Test results are normal.
Imaging
  • Radiography:
    • 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 Findings
  • Scapula:
    • 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.
Differential Diagnosis
  • Congenital cervicothoracic scoliosis may distort the trunk and ribs, thus giving an appearance similar to that of Sprengel deformity.
  • Birth palsy of the upper portion of the brachial plexus may cause an inability to abduct the extremity, so use of the arm resembles that of a patient with Sprengel deformity.
  • Injury to the axillary nerve, such as after a shoulder dislocation, produces deltoid-muscle weakness, with inability to abduct the shoulder.
  • Injury to the long thoracic nerve produces winging of the scapula.
  • Fascioscapulohumeral dystrophy produces bilateral shoulder weakness.
Treatment
General Measures
  • Stretching and strengthening are recommended initially, but it is doubtful whether they make any major improvement.
  • During these early years, the patient should be observed to determine the degrees of visibility of the deformity and its impact on the function of the arm.
  • Problems in these areas are indications for surgery.
Activity
  • Parents or physicians should not restrict activity.
  • Often, these children are surprisingly functional.
Special Therapy
Physical Therapy
  • Physical therapy is useful in nonoperative cases to improve the range of abduction.
    • Active and passive stretching exercises, to be maintained by the parents
  • The family can assess whether the results over the first 2-4 years of the patient’s life are satisfactory.
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
Prognosis
  • The deformity usually is static and does not improve or worsen with time.
  • No evidence indicates that it causes arthritis of the shoulder, although the affected side may be weaker than the contralateral side.
Complications
  • The results of surgery usually are good, but complications include:
    • Brachial plexus stretch
    • Weaknesses of the shoulder muscles
    • Incomplete correction
    • A wide incision scar
Patient Monitoring
  • The family should bring the child in for several visits, ~6-12 months apart, when trying to decide about surgery.
  • 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.
Miscellaneous
Codes
ICD9-CM
755.52 Sprengel deformity
Patient Teaching
  • Parents should be:
    • Shown the normal and abnormal positions of the clavicle
    • Told that stretching results in slight improvement, and surgery results in a good deal more
    • Informed about the length of the surgical incision
FAQ
Q: Is surgery mandatory for Sprengel deformity?
A: It is not mandatory if the appearance of the shoulder and the degree of abduction are acceptable to the patient.

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