Klippel-Feil Syndrome with Sprengel Deformity

Klippel-Feil syndrome with Sprengel deformity

25-year old man with multiple block vertebrae throughout lower cervical spine (C4-C7). The facet joints are fused. Fused bodies appear hypoplastic with reduced AP diameter. Anterior concavity noted at C4 giving a wasp-waist appearance. Intervertebral discs are hypoplastic. Spina bifida noted in lower cervical and upper thoracic vertebrae. Left scapula is high (Sprengel’s deformity). There is a large bony bar projecting from lamina and spinous processes of lower cervical vertebrae to the vertebral border of scapula (Omovertebral bone=OVB).

KFS describes congenital fusion of more than one motion segment (i.e., more than two vertebrae. 20-25% of KFS patients have Sprengel’s deformity which represents failure of descent rather than elevation of scapula.

OVB is present in 30-40% of cases with Sprengel’s deformity. It is not always bone as term implies, it may be composed of cartilage or fibrous tissue.

Reference: Youchum and Rowe’s: Essentials of Skeletal Radiology 2005. Lippincott, Williams & Wilkins

Credit: Dr Ahmed Haroun