Abstract
Williams syndrome is a genetic disorder caused by multiple contiguous gene deletions in chromosome 7. Presentation in early life is most often a result of luminal stenosis of right- and left-sided arterial vasculature. We report the case of a newborn infant who had a rapidly progressing diffuse form of arteriopathy that required two surgeries and one percutaneous balloon dilation within the first 2 months of her life.
MeSH terms
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Angioplasty, Balloon*
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Aortic Coarctation / diagnosis
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Aortic Coarctation / genetics
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Aortic Coarctation / surgery
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Aortic Coarctation / therapy*
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Aortic Diseases / diagnosis
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Aortic Diseases / genetics
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Aortic Diseases / surgery
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Aortic Diseases / therapy*
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Arterial Occlusive Diseases / diagnosis
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Arterial Occlusive Diseases / genetics
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Arterial Occlusive Diseases / surgery
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Arterial Occlusive Diseases / therapy*
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Constriction, Pathologic
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Disease Progression
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Female
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Humans
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Infant, Newborn
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Severity of Illness Index
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Tomography, X-Ray Computed
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Treatment Outcome
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Vascular Surgical Procedures*
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Williams Syndrome / complications*
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Williams Syndrome / diagnosis
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Williams Syndrome / genetics
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Williams Syndrome / therapy