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A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study.
Ann Pediatr Cardiol
December 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.
View Article and Find Full Text PDFDouble Outlet Right Ventricle: A Rare Finding in a 15-Month-Old Female With Failure to Thrive.
Clin Case Rep
January 2025
Department of Radiology and Radiotherapy, School of Medicine, College of Health Sciences Makerere University Kampala Uganda.
Double outlet right ventricle (DORV) is a rare congenital heart defect where both the aorta and pulmonary artery originate from the right ventricle, often accompanied by additional cardiac anomalies to mitigate circulatory imbalance, though such compensations usually fail. We report a 15-month-old infant with recurrent respiratory infections and poor weight gain, referred for computed tomography angiography. Physical examination showed a small, non-syndromic infant with pallor, tachypnea, irritability, and finger clubbing.
View Article and Find Full Text PDFPrenatal Predictors and Early Postnatal Outcomes in Fetuses Diagnosed with Tricuspid Atresia.
Diagnostics (Basel)
December 2024
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis.
View Article and Find Full Text PDFPrinted Models for Better Prediction of Surgery in Patients with Double Outlet Right Ventricle.
Pediatr Cardiol
January 2025
Dept. Cardiothoracic Surgery, Leiden University Medical Center, Leiden, The Netherlands.
The complex and variable anatomy of complex double outlet right ventricle makes it imperative to understand the spatial anatomic structures to determine whether it is feasible to repair the anomaly in a biventricular or univentricular fashion. Biventricular repair should be aimed for but is not always feasible. Choosing the correct surgical technique is of great importance in surgical planning of biventricular repair.
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