Abstract
Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder characterized by craniosynostosis, skeletal abnormalities, infantile hypotonia, mild-to-moderate intellectual disability and cardiovascular anomalies. To our knowledge, this is the first report of a Shprintzen-Goldberg syndrome patient who developed a thoraco-abdominal aortic aneurysm. The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a careful lifetime follow-up was planned.
MeSH terms
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Adolescent
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Aneurysm, Ruptured / diagnosis
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Aneurysm, Ruptured / etiology*
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Aneurysm, Ruptured / surgery
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Aortic Aneurysm, Thoracic / diagnosis
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Aortic Aneurysm, Thoracic / etiology*
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Aortic Aneurysm, Thoracic / surgery
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Arachnodactyly / complications*
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Arachnodactyly / diagnosis
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Blood Vessel Prosthesis Implantation / methods*
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Craniosynostoses / complications*
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Craniosynostoses / diagnosis
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Humans
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Male
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Marfan Syndrome / complications*
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Marfan Syndrome / diagnosis
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Tomography, X-Ray Computed
Supplementary concepts
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Shprintzen Golberg craniosynostosis