{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T17:31:02Z","timestamp":1786728662286,"version":"build-2736575974"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.383870","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T04:21:33Z","timestamp":1692850893000},"page":"767-771","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["A 24-year-Old Male with Marden\u2013Walker Syndrome and Epilepsy"],"prefix":"10.4103","volume":"71","author":[{"given":"Jamir Pitton","family":"Rissardo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Let\u00edcia","family":"Fornari Caprara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele 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Dysmorphol"},{"key":"R10-25-20240907","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ajmg.1320110303","article-title":"Brief clinical report and review: The Marden-Walker syndrome","volume":"11","author":"Jaatoul","year":"1982","journal-title":"Am J Med Genet Part A"},{"key":"R11-25-20240907","doi-asserted-by":"crossref","first-page":"e542","DOI":"10.1016\/j.ejmg.2011.06.005","article-title":"Congenital hydrocephalus in clinical practice: A genetic diagnostic approach","volume":"54","author":"Verhagen","year":"2011","journal-title":"Eur J Med Genet"},{"key":"R12-25-20240907","first-page":"1849","article-title":"Walker-Warburg syndrome","volume":"66","author":"Suthar","year":"2018","journal-title":"N Eurol India"}],"container-title":["Neurology 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