Download full-text PDF

Source

Publication Analysis

Top Keywords

[elfin facies
4
facies mental
4
mental retardation
4
retardation cardiovascular
4
cardiovascular anomalies
4
anomalies williams
4
williams beuren's
4
beuren's syndrome
4
syndrome report
4
report cases]
4

Similar Publications

RobotSDF: Implicit Morphology Modeling for the Robotic Arm.

Sensors (Basel)

August 2024

School of Mechatronic Engineering and Automation, Shanghai University, Shanghai 200444, China.

The expression of robot arm morphology is a critical foundation for achieving effective motion planning and collision avoidance in robotic systems. Traditional geometry-based approaches usually suffer from the contradiction between the high demand for computing resources for fine expression and the insufficient detail expression caused by the pursuit of efficiency. The signed distance function addresses these drawbacks due to its ability to handle complex and arbitrary shapes and lower computational requirements.

View Article and Find Full Text PDF

Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.

View Article and Find Full Text PDF

Williams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent.

View Article and Find Full Text PDF

Atrial septal defect in a pediatric patient with Williams Syndrome: a rare presentation.

J Surg Case Rep

November 2022

Departamento de Pediatria, UNICAR, Guatemala, 01010, Guatemala.

Characterized by congenital heart defects (CHD) and elfin-like facies, Williams-Beuren syndrome (WS) is a multisystemic disorder that occurs approximately in 1 in 10 000 newborns [1]. WS is caused by a contiguous gene microdeletion of the Williams Beuren syndrome critical region (WBSCR) on chromosome 7q11.23, resulting in an abnormal elastin gene (ELN).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!