Thoracic-pelvic dysostosis
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Published on: April 19, 2024
I Marik1, J Grochova, K Kozlowski
1Centre for Patients with Defects of the Locomotor System, Praha, Czech Republic.
Abstract:
We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic dysplasia (Barnes syndrome). The only major difference between these two diseases is absence of laryngeal involvement in thoraco-pelvic dysplasia. They may represent two different entities or a contiguous gene syndrome.
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