Congenital High Scapula-Sprengel Deformity

In intrauterine life, the scapula initially appears as a cervical appendage and descends down as the foetus grows. When it fails to descend from the neck to its usual location it results in elevated scapula, known commonly as Sprengel’s deformity.

Sprengel’s deformity almost always occurs sporadically but in some patients, Sprengel’s deformity has an apparent autosomal dominant pattern of inheritance.

The affected scapula in Sprengel’s deformity is abnormally high. It is small, with a smaller vertical diameter and an apparently greater width.

Its shape is distorted, its supraspinous portion tilted forward to fit the convexity of the upper thorax.

There may be a prolongation or broadening of the superior median angle or the upper third of the median border of the scapula to the spinous process, lamina, or transverse process of one of the lower cervical vertebrae (fourth to seventh).

The omovertebral bone may be attached to the vertebral border of the scapula in a number of ways: by cartilaginous union or by a fibrous band. On occasion, it may form a true joint with a small osseocartilaginous protuberance projecting from the midvertebral border of the scapula.

The shoulder girdle musculature is usually defective, the trapezius being most often affected. The muscle may be absent or weak, especially in its lower portion. The rhomboids and levator scapulae are usually hypoplastic and partially fibrosed. The serratus anterior may be weak.

The pectoralis major, pectoralis minor, latissimus dorsi, and sternocleidomastoid muscles may be affected.

Associated congenital deformities are

• Absence or fusion of ribs
• Cervical ribs
• Klippel-Feil syndrome
• Congenital scoliosis with hemivertebrae
• Spina bifida in the cervical region
• Syringomyelia
• Paraplegia
• Platybasia
• Situs inversus
• Mandibulofacial dysostosis.

The humerus may be shortened on the affected side.

The clavicle may be malformed or hypoplastic, or it may fail to articulate with the acromion. Congenital shortening of the femur, incomplete intercalary tibial hemimelia, radial hemimelia, and ray defects of the hand and foot are other rare associated congenital anomalies.

Kidney malformations, such as ectopia, hypoplasia or absence of a kidney are infrequent but do occur.

Clinical Features

The asymmetry of the shoulder caused by the upward and forward displacement of the scapula is the salient physical finding.

The deformity is usually noticed at birth; it progresses with growth. It is more preponderant in girls.

The deformity may be bilateral. The level of the scapula in relation to the vertebral column varies with the severity of the condition.

On the affected side, the neck is fuller and shorter. The affected scapula is often tilted obliquely upward and laterally at an angle of 25 degree from the horizontal.

Passive motion of the glenohumeral joint is usually within normal range. Scapulocostal motion is restricted owing to loss or marked decrease of mobility of the scapula over the thorax secondary to omovertebral bone or fibrous adhesions binding the scapula to the ribs.

Kyphosis and Torticollis may be present. Deformities of the rib cage, such as absence of ribs, may be clinically palpable.

When the condition is bilateral, the neck appears very short and thick. Abduction is limited in both shoulders, and the cervical lordosis may be increased.

Radiographic Findings

Radiograms will demonstrate the elevation of the scapula and its associated bony deformities. They are best visualized by taking the following views

• Anteroposterior views of both shoulders with the arms at the sides and with the shoulders in both maximal active and passive abduction

• Lateral view of the cervical and dorsal spine
• Oblique and lateral views of the scapula to demonstrate the omovertebral bone.

Treatment

The goal of treatment is correction of deformity and achieving good range of motion. In infants and young children, passive and active stretching should be done.

If deformity is severe and functional impairment is high surgical correction mus be considered.

Related posts:

1. Congenital Muscular Torticollis-Diagnosis and Treatment
2. Congenital Dislocation Of The Shoulder
3. Congenital Muscular Torticollis-Etiology Pathology and Clinical Findings
4. Congenital Longitudinal Deficiency of Hypoplastic Thumb
5. Congenital Clasped Thumb