Publications by authors named "Dante F Varotsis"
Prenat Diagn
October 2024
Article Synopsis
- Alkuraya-Kučinskas syndrome (AKS) is a rare genetic disorder caused by mutations in the BLTP1 gene, leading to various serious developmental issues such as brain malformations, joint contractures, and clubfeet.
- A case study highlights two new mutations associated with AKS, showcasing severe anomalies in a fetus, including hydrops and brainstem kink, alongside a literature review of 19 other cases that provides insights into common prenatal features.
- The review indicates that many AKS cases present significant symptoms like joint contractures, brain issues, and facial abnormalities, stressing the importance of genetic testing for diagnosis when such features are observed in a fetus.
