AI Article Synopsis
- - Spondylospinal thoracic dysostosis is a type of spondylocostal dysostosis characterized by vertebral defects and thoracic anomalies, including hemivertebrae and short thorax.
- - The syndrome was initially documented by Johnson et al. (1997) in two siblings exhibiting traits such as dwarfism, spinal curvature, and multiple pterygium.
- - This case study highlights a 16-year-old Mexican girl who has surpassed the previous oldest recorded patient, and it offers insights into the natural history and new features of this rare condition.
Article Abstract
Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). This syndrome was described by Johnson et al. (1997) in two siblings with dwarfism, short thorax, curved spine, fusion of the vertebrae and spinal process, multiple pterygium, and arthrogryposis. We describe the case of a 16-year-old Mexican girl with the longest survival recorded (the previous oldest patient was 7 years old) and analyze the natural history and describe some new features of this rare entity.
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| http://dx.doi.org/10.1097/MCD.0000000000000058 | DOI Listing |
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