Klippel feil syndrome

Case contributed by Dr Heba Abdelmonem

Presentation

Deformed left shoulder with short neck

Patient Data

Age: 3 years
Gender: Male
CT
  1. 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.
  2. C5, C6 and C7 spina bifida.
  3. An omovertebral bone extends from the superomedial border of the left scapula to the C6 lamina.
  4. 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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Case information

rID: 88442
Published: 7th Apr 2021
Last edited: 8th Apr 2021
Inclusion in quiz mode: Included
Institution: Zagazig University Hospital

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