Which ultrasound finding is characteristic of Williams syndrome?

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The ultrasound finding characteristic of Williams syndrome is supra-valvular aortic stenosis. Williams syndrome is a genetic condition caused by the deletion of genetic material from a specific region of chromosome 7, which includes genes important for the development of connective tissue and certain cardiovascular structures.

Patients with Williams syndrome often exhibit a distinctive profile of cardiovascular findings, with supra-valvular aortic stenosis being particularly common. This condition involves a narrowing of the aorta just above the aortic valve, which can result in significant heart complications and requires careful monitoring and possibly surgical intervention.

While atrial septal defect, ventricular septal defect, and coarctation of the aorta can occur in various heart conditions, they are not as strongly associated with Williams syndrome specifically as supra-valvular aortic stenosis is. Thus, recognizing this specific finding is crucial for clinicians and genetic counselors when assessing for this syndrome.

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