Jarcho-Levine syndrome

Case contributed by Dr Anuj Aggarwal
Diagnosis certain

Presentation

15 year female patient presented with short neck, spinal and chest wall deformities.

Patient Data

Age: 15 years
Gender: Female
x-ray

Crab like ribs with multiple vertebral anomalies seen (hemivertebra at dorsal vertebral level with sacral dysgenesis).

Case Discussion

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathological entity.

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