ArticlePediatric nephrology (Berlin, Germany)2025
Thick skin and thicker arteries: case report on a rare cause of hypertension.
Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia.Frontiers in pediatrics · 2025Article
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6 authors.
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Abstract
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome. Hypertension was controlled with three anti-hypertensive agents and vascular intervention is planned. It is characterized by a multisystem connective tissue disorder associated with progressive fibrosis of skin, cardiovascular, musculoskeletal, gastrointestinal and respiratory systems. This case highlights the need for recognizing syndromic features in children with renovascular hypertension.
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