Marfan Syndrome: A Case Report
Abstract: Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. I will report a case of Marfan syndrome which was incidentally diagnosed in a 9-year-old male presenting with anorexia after routine physical examination revealed positive Steinberg (thumb) and Walker-Murdoch (wrist) signs. Subsequent diagnostic workup confirmed aortic root dilation (Z-score +2.8) and bilateral ectopia lentis. The Revised Ghent Nosology criteria alongside a confirmed FBN1 gene mutation. This case report highlights the clinical utility of physical examination during routine pediatric evaluations.
Keywords: Marfan Syndrome, FBN1 Gene Mutation, Ghent Nosology, Ectopia Lentis, Pediatric Screening
How to Cite?: Abdullah Al Saleh, "Marfan Syndrome: A Case Report", Volume 15 Issue 10, October 2026, International Journal of Science and Research (IJSR), Pages: 895-896, https://www.ijsr.net/getabstract.php?paperid=SR261013142656, DOI: https://dx.doi.org/10.21275/SR261013142656