Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by growth restriction, intellectual disability, skeletal anomalies, and distinctive craniofacial features. We present two pediatric cases of CdLS with previously undescribed cerebrovascular malformations. Cerebrovascular anomalies have not yet been systematically reported in CdLS. Both patients share similar clinical features and comparable complex vascular patterns, including a right aortic arch and an isolated common trunk for the left vertebral and subclavian arteries. The left cerebral hemisphere is primarily supplied via contralateral vessels. These findings suggest a potential link between cohesin gene variants and cerebrovascular development, warranting further investigation into the role of these genes in angiogenesis and the neurovascular phenotypes of CdLS.
Macchiaiolo et al. (Wed,) studied this question.