Article
Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.
American journal of medical genetics. Part A - 1 Oct 2026
Macchiaiolo Marina, Carboni Alessia, Gonfiantini Michaela Veronika, Vecchio Davide, Biuso Andrea, Lucignani Giulia, Gandolfo Carlo
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
- Humans
- De Lange Syndrome
- Cell Cycle Proteins
- Female
- Male
- Head
