{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T09:42:58Z","timestamp":1786700578777,"version":"build-2736575974"},"reference-count":23,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[1993,10,1]],"date-time":"1993-10-01T00:00:00Z","timestamp":749433600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:p>Neurofibromatosis type 1 is a common multisystem disorder, best managed in a multidisciplinary clinic. In 1991, the first Australian neurofibromatosis clinic was established at the Children's Hospital, Camperdown, and the clinical characteristics of the first 150 families are reviewed.<\/jats:p>\n                  <jats:p>Two hundred individuals were assessed; there was an equal sex distribution, and 55% of cases were sporadic. Advanced paternal age appeared to predispose to new mutations in the neurofibromatosis gene. Caf\u00e9-au-lait spots and axillary freckling were important to the diagnosis of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning disabilities (45%) were common associated features. The prevalence of disease complications was similar to the major US and European studies. (J Child Neurol 1993;8:395-402).<\/jats:p>","DOI":"10.1177\/088307389300800421","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"395-402","source":"Crossref","is-referenced-by-count":110,"title":["Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic"],"prefix":"10.1177","volume":"8","author":[{"given":"Kathryn","family":"North","sequence":"first","affiliation":[{"name":"Department of Neurology, The Children's Hospital, Camperdown, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1993,10,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.6.1355"},{"key":"atypb2","first-page":"575","volume":"45","author":"National Institutes of Health Consensus Development Conference","year":"1987","journal-title":"Arch Neurol"},{"key":"atypb3","volume-title":"Neurofibromatosis. 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