{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T06:08:22Z","timestamp":1786946902741,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:00:00Z","timestamp":1719964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras\/mitogen\u2010activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been reported. High\u2010resolution nerve ultrasound enables detailed anatomical assessment of peripheral nerves and can show enlarged nerves. This retrospective cohort study aims to describe the sonographic findings of patients with NS performed during a 1\u2010year time period. Data on the degree of enlargement, the relation to increasing age, pain in extremities, genotype on the gene level and clinical features were collected. Twenty\u2010nine of 93 patients visiting the NS Center of Expertise of the Radboud University Medical Center Nijmegen underwent high\u2010resolution ultrasound. In 24 patients (83%) nerve enlargement was found. Most of them experienced pain. We observed a weak correlation with increasing age and the degree of nerve enlargement but no association with pain, genotype at the gene level or clinical features. This study shows that patients with NS have a high predisposition for sonographic nerve enlargement and that the majority experience pain.<\/jats:p>","DOI":"10.1002\/ajmg.a.63810","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T13:04:11Z","timestamp":1720011851000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study"],"prefix":"10.1002","volume":"194","author":[{"given":"Fieke","family":"Draaisma","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Radboud Institute for Health Sciences Radboud University Medical Center, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika K. S. 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