Klippel-Feil syndrome with Sprengel deformity

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.

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