Klippel feil syndrome
Presentation
Deformed left shoulder with short neck
Patient Data
Age: 3 years
Gender: Male
From the case:
Klippel feil syndrome
CT
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Coronal bone window
- 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 .
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