Tag: #GeneticDisorders
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Hidden Endocrine Complications in Rothmund Thomson Syndrome A Rare Sibling Case Study
Introduction Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that presents with dermatological, skeletal, and growth abnormalities but its endocrine complications often go unnoticed. A recent case report published in the Annals of Clinical Endocrinology and Metabolism sheds light on the hidden hormonal dimensions of this condition through two sibling cases. For more peer-reviewed endocrine…
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Gauchers Disease and Liver Involvement Is It a Hidden Cause of Chronic Liver Disease
Introduction Gaucher’s disease (GD) is a rare inherited metabolic disorder that can involve multiple organs, particularly the liver, spleen, and bone marrow. But how often is it truly responsible for chronic liver disease of unknown origin A recent study published in the Annals of Clinical Gastroenterology and Hepatology explores this important question. The researchers evaluated…
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Apert Syndrome Unveiling a Rare Craniofacial Disorder
Introduction: Apert Syndrome, a rare genetic condition, causes significant craniofacial abnormalities and syndactyly, affecting one in 160,000 to 200,000 live births. This article explores the clinical manifestations, diagnostic methods, and treatment approaches for Apert Syndrome. For more groundbreaking research on craniofacial disorders, visit https://www.obstetricgynecoljournal.com. Main Content: Apert Syndrome is an autosomal dominant disorder primarily caused…
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Unraveling Gitelman Syndrome: A Rare Yet Critical Cause of Electrolyte Imbalance”
Introduction Gitelman Syndrome (GS) is a rare genetic disorder affecting kidney electrolyte reabsorption, leading to persistent hypokalemia, hypomagnesemia, and metabolic alkalosis. Though often misdiagnosed, timely identification and management are crucial to prevent complications. Visit Clinical Nephrology Journal for more groundbreaking research in nephrology. Understanding Gitelman Syndrome GS is caused by mutations in the SLC12A3 gene,…
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