60 – Spinal Abnormalities and Klippel-Feil Syndrome

Abstract Spinal malformations associated with vertebral segmentation defects and progressive fusions are seen in numerous disorders, particularly those associated with skeletal disorders. Among spinal malformations, one of the best-described constellation of findings is Klippel-Feil syndrome (KFS). It is a triad of short neck, low posterior hairline, and limitation of head and neck movements. It is caused by the failure of the spine to segment properly during embryonic development. Ultrasound abnormalities include cervical fusions, blocking, and hemivertebrae. These findings should prompt further investigations of the spine, appendicular skeleton, and facies, as well as the neurologic, cardiovascular, and genitourinary systems.