Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed. In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ajog.2011.09.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case of a Young Male Recruit With Chest Pain Leading to Entry-Level Separation and Career Termination.
Cureus
December 2024
Critical Care, Captain James A. Lovell Federal Health Care Center, Rosalind Franklin University of Medicine and Science, North Chicago, USA.
This is a case of a young, 20-year-old, male Navy recruit who was admitted to our healthcare facility with intermittent atypical chest pain and limiting exertional symptoms and was diagnosed with myocardial bridging (MB) as the most likely etiology of his chest after the complete cardiac workup, leading to his career limitations due to potential risks. Our patient presented with atypical chest pain and limiting exertional symptoms. Chest pain was non-radiating.
View Article and Find Full Text PDFEthnic and racial differences in children and young people with respiratory and neurological post-acute sequelae of SARS-CoV-2: an electronic health record-based cohort study from the RECOVER Initiative.
EClinicalMedicine
February 2025
Division of Respiratory Medicine, Department of Pediatrics, University of California San Diego, Rady Children's Hospital of San Diego, San Diego, CA, USA.
Background: Children from racial and ethnic minority groups are at greater risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but it is unclear whether they have increased risk for post-acute sequelae of SARS-CoV-2 (PASC). Our objectives were to assess whether the risk of respiratory and neurologic PASC differs by race/ethnicity and social drivers of health.
Methods: We conducted a retrospective cohort study of individuals <21 years seeking care at 24 health systems across the U.
Orthotopic heart transplantation in patient with Williams syndrome: case report and considerations in perioperative and long-term management.
Cardiol Young
January 2025
Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
This report describes the first long-term survival following a heart transplant for Williams syndrome-associated cardiac pathologies. An 11-year-old patient with severe global left ventricular dysfunction presented with heart failure and underwent heart transplantation. Her peri- and post-operative courses were complicated by hypertension related to underlying vascular pathology.
View Article and Find Full Text PDFSeveral techniques for the surgical correction of congenital supravalvular aortic stenosis have been devised. We describe the step-by-step surgical approach of a slide aortoplasty to correct localized supravalvular aortic stenosis in a 3-year-old child with Williams syndrome.
View Article and Find Full Text PDFSex Differences in Long COVID.
JAMA Netw Open
January 2025
University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Importance: A substantial number of individuals worldwide experience long COVID, or post-COVID condition. Other postviral and autoimmune conditions have a female predominance, but whether the same is true for long COVID, especially within different subgroups, is uncertain.
Objective: To evaluate sex differences in the risk of developing long COVID among adults with SARS-CoV-2 infection.
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!