Klippel-Feil syndrome with sprengel deformity

Case contributed by Dr Mostafa El-Feky

Presentation

Right shoulder deformity

Patient Data

Age: 5 years
Gender: Male
X-ray

X-Ray chest

Elevated high-riding right scapula.

Bifid right first rib and crowding of right-sided ribs.

Shallow glenoid and widened right acromiohumeral distance.

CT

CT right shoulder

Elevated high riding right scapula is noted (sprengel deformity).

Shallow glenoid and widened acromiohumeral interval is noted.

No associated omovertebral bony connection to the cervical spine.

Bifid configuration of the right first rib is noted. Crowding of the right side chest ribs.

Block vertebra of C6 and C7, the fused vertebral bodies appear hypoplastic with mild reduced anteroposterior diameter with an anterior and posterior concavity giving a wasp-waist appearance.

Spina bifida is noted at C6 and C7 posterior arches.

DV2 and DV4 hemivertebra are noted with hypoplasia of the right component of the vertebral body.

Mild S-shaped cervicothoracic scoliosis is noted with mild deviation of the mediastinum to the right side.

Case Discussion

Sprengel deformity is the most common congenital shoulder deformity. This causes cosmetic and functional problems. There is an associated restricted motion of the scapula and glenohumeral joint. It is associated with other abnormalities of the vertebrae and ribs. The omovertebral bone (os omovertebrale) is present in about 35% of cases.

In this case; no associated omovertebral bone connection between the scapula and cervical spine. Bifid configuration of the right first rib is noted with crowding of the lower ribs. Fusion of the visualized lower cervical vertebral bodies is also seen with Wasp-waist sign seen as block vertebra of C6 and C7. Spina bifida is noted at C6 and C7 posterior arches. D2 and D4 hemivertebra are noted with hypoplasia of the right component of vertebral body. Mild S-shaped cervicothoracic scoliosis is noted with mild deviation of the mediastinum to the right side.

These features raise the possibility of associated Klippel-Feil syndrome.

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Case information

rID: 52725
Published: 21st Apr 2017
Last edited: 23rd Mar 2019
Inclusion in quiz mode: Included

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