Klippel-Feil syndrome with Sprengel deformity

Case contributed by Dr Vincent Tatco

Presentation

Neck pain with limited range of motion

Patient Data

Age: 16
Gender: Female
Modality: X-ray

There is fusion of the C4, C5, C6 and C7 vertebrae.

A cervical rib is seen emanating from the left C7 transverse process.

There is an elongated bone alongside the left lateral aspect of the C7 to T3 vertebrae which likely represents an omovertebral bone.

Modality: CT

The atlas demonstrates an anterior arch cleft and a large osseous defect involving its left posterior hemiarch and posterior tubercle.

There is fusion of the vertebral bodies and most o the posterior elements of C4, C5, C6, C7 and T1 vertebrae. The fused vertebral bodies appear hypo plastic with reduced anteroposterior diameter and an anterior concavity giving a wasp-waist appearance. The C5 vertebral body has a butterfly configuration. The intervertebral discs at these levels are rudimentary. These findings are compatible with Klippel-Feil syndrome.

Spina bifida is noted at the C4, C5, C6 and C7 vertebrae.

Cervicothoracic scoliosis is demonstrated.

There is a cervical rib projecting from the left C7 transverse process.

The left scapula is higher than usual. There is a bony structure (omovertebral bone) running along the left side of the spinous processes of C7 to T3 and terminating at the medial border of the left scapula, probably with fibrous fusion or attachment. These findings are reflective of Sprengel deformity.

Case Discussion

Klippel-Feil syndrome is a complex disorder that consists of congenital fusions of the cervical vertebrae. It occurs in one of every 42,000 births, and 60% of cases are female.  This syndrome results from failure of the normal segmentation of the cervical somites during the 3rd to 8th weeks of gestation.

Classically there is a triad of short neck, a low posterior hairline & a limited range of neck movements especially of lateral bending. Less than 50% of cases have all the three elements.

Klippel-Feil syndrome is associated with Sprengel deformity (congenital high scapula), scoliosis, urinary tract anomalies, and congenital heart disease.

In Sprengel deformity, the scapula is bound to the cervical spine by fibrous tissue, cartilage or an omovertebral bone, which restrict abduction of the shoulder. It occurs in 20-30% of patients with Klippel-Feil syndrome.

PlayAdd to Share

Case Information

rID: 40862
Case created: 5th Nov 2015
Last edited: 22nd Apr 2017
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.