Abstract
Williams-Beuren syndrome (WBS), commonly abbreviated to Williams syndrome, is well described in the literature regarding its typical clinical presentation, which is the result of a heterozygous deletion within the genetic sequence located on chromosome 7q11.23. The gene for elastin (ELN) is located within this DNA sequence. Patients with WBS exhibit multi-organ involvement including cardiac abnormalities such as supravalvular aortic stenosis and connective tissue disorders due to the disruption of ELN.1 In this case, we present an infant born with extensive infantile hemangiomas, including cutaneous and organ involvement, verified by skin biopsy, and abnormal hepatic vessels. Our patient received an extensive workup and treatment for her skin findings as a newborn but was not diagnosed with WBS until the age of two years old. The diagnosis of WBS was confirmed by chromosomal microarray. Beyond arterial narrowing and associated hypertension, there has been no association between WBS and other vascular anomalies previously noted in the literature.
Recommended Citation
Barrientez, Meredith; Forrester, Katherine; and Rozier-Chen, Margaret
(2025)
"A Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome,"
Journal of Pediatric Genetics: Vol. 14:
Iss.
2, Article 8.
DOI: https://doi.org/10.53391/2146-460X.1018
Available at:
https://jpg.researchcommons.org/journal/vol14/iss2/8