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Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
Front Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
[Transcatheter closure of patent ductus arteriosus in an extremely low birth weight preterm infant].
Zhonghua Er Ke Za Zhi
January 2025
Heart Center, Women and Children's Hospital, Qingdao University, Qingdao266034, China.
Pattern and Frequency of Congenital Heart Defects Among Infants of Diabetic Mothers.
Cureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
View Article and Find Full Text PDFBackground: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
When High-Risk Ductal Stenting Goes Wrong: Use of Percutaneous VV ECMO Support and Acute Left Pulmonary Artery Loss.
Pediatr Cardiol
January 2025
Arkansas Children's Hospital, Arkansas Children's Hospital, 1 Children's Way, Slot 512-3, Little Rock, AR, 72202, USA.
Patent ductus arteriosus (PDA) stenting is a vital intervention for neonates with ductal-dependent blood flow, offering an attractive alternative to surgical shunt placement. Despite its benefits, the procedure poses risks such as ductal spasm, branch pulmonary artery compromise, and pseudoaneurysm formation. This report presents two complex neonatal cases with distinct outcomes.
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