Presentation
Deformed left shoulder with short neck
Patient Data
Age: 3 years
Gender: Male
From the case:
Klippel feil syndrome
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/105086/annotated_viewer_json?iframe=true\u0026lang=us"}
- multiple vertebral segmentation anomalies in the form of partial fusion of C6 and C7 vertebral bodies as well as C3, C4 and C5 vertebral bodies
- C5, C6 and C7 spina bifida
- an omovertebral bone extends from the superomedial border of the left scapula to the C6 lamina
- small left scapula with abnormal elevation, sprengel deformity
Case Discussion
Klippel-Feil syndrome is diagnosed by congenital fusion of at least two cervical vertebrae with an absence of the intervertebral discs. The classical triad consists of a short neck, limitation of head and neck movements and a low posterior hairline. This triad is present in 50% of patients Klippel-Feil can be associated with multiple anomalies such as congenital heart defects, deafness as well as other skeletal deformities such as scoliosis, malformed ribs and Sprengel deformity.