Sprengel deformity

Sprengel-Deformität
mit Os omocervicale
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Os
omo-vertebrale in Sprengel-Deformitaet, laterale Projektion HWS
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Mutation in
MEOX1gene causes a recessive Klippel-Feil syndrome subtype. Patient photographs of family members IV-2 and IV-3 show KFS phenotypes. Photographs of patients from the side (A and B) and behind (C and D) show short neck, low posterior hairline, and elevated scapula (Sprengel’s deformity). 3D cervical spine skull base CT images show omovertebral bone causing Sprengel’s deformity, posterior neural arch fusion defects, and fusions between vertebrae (E and F). Whole spine sagittal section T2-weighted MR images show cervical vertebrae count anomaly (G and H). Axial skull base CT images show malformation of the foramen magnum (I and J). Sagittal reconstruction of cervical and skull base CT images show abnormal bony formation emerging from posterior structures as well as fusion between posterior structures of some successive vertebrae, occipitalization of atlas and dens, and corpus anomalies (K and L). Scoliosis is evident on coronal T2-weighted whole spine MR images. Fusion defects are seen in midportions of vertebra corpuses (M and N).
bmcgenomdata.biomedcentral.com • CC-by-2.0
Infant with
an abnormal appearance of the left shoulder. CXR AP shows elevation of the left scapula, multiple upper thoracic spine vertebral body segmentation anomalies, and fusion of the right third and fourth ribs and left second and third ribs. An ossified omovertebral bar is not present.The diagnosis was Sprengel deformity.
pediatricimaging.org • CC-by-nc-sa 4.0
Klippel-Feil
Syndrome with associated meningocoele and Sprengel deformity. Klippel-Feil syndrome with Sprengel syndrome
www.eurorad.org • CC by-nc-sa-4.0
3D
reconstruction of a CT scan showing fused cervical vertebrae and Sprengel"s deformity, as seen in Klippel–Feil syndrome
Wikipedia • CC BY 4.0
Os
omocervicale und Bogenschlussanomalien cervicothoral
Wikipedia • CC BY-SA 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Sprengel deformity, or congenital elevation of the scapula, is a complex deformity of the shoulder and is the most common congenital shoulder abnormality. An initial diagnosis can often be made on radiographs, but CT or MRI is often necessary to evaluate the details of the abnormality.

Clinical presentation

Sprengel deformity is usually noticed at birth and has both cosmetic and functional implications. The elevated scapula is visually noticeable and there is an associated restriction in the motion of the scapula and glenohumeral joint.

Classification

The Cavendish classification is one method used for grading:

  • grade I
    • very mild deformity is observed
    • when covered with clothes the deformity is almost invisible
  • grade II
    • the deformity is still mild but appears as a bump
    • the superomedial portion of the high scapula is convex, forming a bump
  • grade III
    • moderate deformity with 2-5 cm of visible elevation of the affected shoulder
  • grade IV
    • severe deformity with >5 cm elevation of the affected shoulder, accompanied by neck webbing

Pathology

The abnormality results from failure of caudal migration of the scapula during early fetal development.

Associations

Sprengel deformities usually coexist with other congenital abnormalities, particularly those involving the vertebrae and ribs. An omovertebral bar (fibrous, cartilaginous and/or osseous connection between the scapula and cervical spine) is often present.

It is also commonly associated with hypoplasia or atrophy of regional muscles, and these associated features can cause further misshaping of the shoulder and limitation of shoulder movement.

Patients with Sprengel deformity often have one or more of the following abnormalities and conditions:

These possible co-existing anomalies need to be looked for in any patient presenting with Sprengel deformity.

Radiographic features

Plain radiograph

The affected scapula is elevated and rotated, with the inferior angle directed laterally.

The radiographic Rigault classification :

  • grade I: superomedial angle lower than T2 but above T4 transverse process
  • grade II: superomedial angle located between C5 and T2 transverse process
  • grade III: superomedial angle above C5 transverse process
CT

CT with 3D reconstruction is being used to evaluate omovertebral connection and scapula dysplasia and malpositioning. It can be used in preoperative planning.

MRI

There may be a role in MRI to assess omovertebral connection.

Treatment and prognosis

Surgery is performed to improve cosmetic and functional disability. It is generally considered for patients between 3 and 8 years of age who have moderate to severe disability (or a Cavendish score of 3-4).

Two of the most used surgical methods are the “Woodward” procedure and the “modified-Green” procedure with good functional and cosmetic outcome.

History and etymology

It is named after Otto Gerhard Karl Sprengel (1852-1915) , a German surgeon who described four cases in 1891.

Differential diagnosis

Possible differential diagnosis on presentation:

Siehe auch:
Assoziationen und Differentialdiagnosen zu Sprengel-Deformität:
Klippel-Feil-Syndrom
 
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Rachitis
 
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Os
omo-vertebrale
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