{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:14:29Z","timestamp":1760188469921},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":9138,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1979,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sixteen patients affected with multiple endocrine neoplasia, type 2b (MEN 2b), were evaluated by clinical, neurological, nerve conduction and electromyographic, and postmortem examinations. Eight of the 11 patients examined clinically had symptoms: 5, neurogenic constipation; 1, failing vision due to hypertrophied corneal nerves; 1, neuromuscular symptoms and pes cavus; and 1, facial disfigurement. Expression of the dominantly inherited MEN 2b gene is more variable than previously known. When neuromuscular findings are present alone, the features may be those of peroneal muscular atrophy. Because 10 of the 11 patients had sufficiently full expression of the dominantly inherited gene\u2014\u201cMarfanlike\u201d body build, full and fleshy lips, whitish yellow nodules (neuromas) on the tip and edges of the tongue, pes cavus, or peroneal muscular atrophy the presence of MEN 2b was recognized and a search for the usually associated medullary thyroid carcinoma was instigated. In addition to the recognized involvement of autonomic nerves, we have confirmed that somatic motor and sensory neurons may be involved. Findings at postmortem evaluation indicate that symptoms can be attributed to neuroma formation: a characteristic adventitious plaque of tissue composed of hyperplastic, interlacing bands of Schwann cells and myelinated fibers overlay the posterior column of the spinal cord.<\/jats:p>","DOI":"10.1002\/ana.410060404","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:55:21Z","timestamp":1104598521000},"page":"302-314","source":"Crossref","is-referenced-by-count":45,"title":["Multiple endocrine neoplasia, type 2b: Phenotype recognition; neurological features and their pathological basis"],"prefix":"10.1002","volume":"6","author":[{"given":"Peter","family":"James Dyck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Carney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. 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Ohio State","volume":"60","author":"Hamwi GJ","year":"1964","journal-title":"Med J"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688925"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1542\/peds.52.2.283","article-title":"Phenotype of malignancy: the mucosal neuroma syndrome","volume":"52","author":"Schimke RN","year":"1973","journal-title":"Pediatrics"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196807042790101"},{"key":"e_1_2_1_21_2","first-page":"282","article-title":"Multiple Neurome des Auges und der Zunge","volume":"43","author":"Wagenmann A","year":"1922","journal-title":"Ber Dtsch Ophthalmol Ges"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410060404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410060404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T13:44:22Z","timestamp":1698932662000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410060404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,10]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1979,10]]}},"alternative-id":["10.1002\/ana.410060404"],"URL":"https:\/\/doi.org\/10.1002\/ana.410060404","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,10]]}}}