{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T22:38:22Z","timestamp":1792276702627,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two brothers and an unrelated male with neurofibromatosis (NF) developed hydrocephalus in childhood. Aqueductal stenosis (AS) was demonstrated by ventriculography and required shunt operation. Genetic counselors had to decide whether to invoke an X\u2010linked gene for AS or whether AS could be caused by the NF mutation. Reports of 13 patients of both sexes with AS and NF suggest that AS with resulting hydrocephalus may be a rare manifestation of the NF gene. AS should be looked for in young NF patients with signs of hydrocephalus or with neurologic abnormalities.<\/jats:p>","DOI":"10.1002\/ajmg.1320140322","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:47Z","timestamp":1118504087000},"page":"577-581","source":"Crossref","is-referenced-by-count":20,"title":["Aqueductal stenosis leading to hydrocephalus\u2014an unusual manifestation of neurofibromatosis"],"prefix":"10.1002","volume":"14","author":[{"given":"Arthur","family":"Horwich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent M.","family":"Riccardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Francke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Risk, Communication, and Decision Making in Genetic Counseling","author":"Bay C","year":"1979"},{"issue":"5","key":"e_1_2_1_2_2","first-page":"95","author":"The National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","volume-title":"Risk, Communications, and Decision Making in Genetic Counseling","author":"Burton BK","year":"1979"},{"issue":"5","key":"e_1_2_1_3_2","first-page":"107","author":"The National Foundation \u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","volume-title":"A clinical, pathological, and genetic study of multiple neurofibromatosis","author":"Crowe FW","year":"1956"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1961.00450170090011"},{"key":"e_1_2_1_6_1","first-page":"308","article-title":"Malattia di von Recklinghausen ad espresisone \u201ccentrale\u201d: Descrizione di un caso clinico con sintomatologia multifocale ed idrocefalo da stenosi dell'acquedotto di Silvio","volume":"99","author":"Krajewska G","year":"1978","journal-title":"Riv Patol Nerv Ment"},{"key":"e_1_2_1_7_1","unstructured":"LaurenceKM(1962):Aqueduct gliosis and von Recklinghausen's disease. 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