{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:31:48Z","timestamp":1788305508259,"version":"build-2803163510"},"reference-count":57,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T00:00:00Z","timestamp":1179187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The characteristic sites of Neurofibromatosis 1\u2010associated osseous manifestations are the long bones (usually the tibia and fibula), vertebrae and sphenoid wing. Although these focal bony lesions may cause profound clinical consequences, a minority of people with NF1 are affected. However, most people with NF1 are shorter than expected for their age, gender and family. The pathogenesis of NF1 focal osteopathy and its relationship, if any, to short stature are unknown. We examined associations between the occurrence of various osseous lesions in 3377 NF1 probands from the Children's Tumor Foundation NF International Database. Using logistic regression analysis among 260 NF1 probands who had undergone radiological examination of both the spine and skull, we found associations between the occurrence of sphenoid wing and long bone osteopathy (conditional odds ratio [OR]\u2009=\u20096.1; 95% confidence interval [CI]\u2009=\u20091.7\u201322.3; <jats:italic>P<\/jats:italic>\u2009=\u20090.006) and between sphenoid wing and vertebral osteopathy (OR\u2009=\u200916.9; 95% CI\u2009=\u20095.3\u201353.3; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) after adjusting for age and gender. Similar findings were observed from all 3377 NF1 probands using a multivariate probit regression model. In a separate analysis, we found lower age\u2010 and gender\u2010standardized height in patients who had characteristic vertebral or sphenoid wing lesions than in people who did not (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). We found no relationship between height and tibial osteopathy. We conclude that some people with NF1 are more likely to develop osseous manifestations than others and speculate that there may be a common pathogenetic mechanism responsible for the development of osseous abnormalities and that of the vertebrae and long bones. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31754","type":"journal-article","created":{"date-parts":[[2007,5,16]],"date-time":"2007-05-16T07:23:14Z","timestamp":1179300194000},"page":"1326-1333","source":"Crossref","is-referenced-by-count":39,"title":["Associations of osseous abnormalities in Neurofibromatosis 1"],"prefix":"10.1002","volume":"143A","author":[{"given":"S.","family":"Alwan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Joe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.H.","family":"Birch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Szudek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1302\/0301-620X.64B5.6815200","article-title":"Congenital pseudarthrosis of the ulna due to Neurofibromatosis","volume":"64","author":"Ali MS","year":"1982","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00410.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2307\/2529107"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588153"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/93.4.829"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.151.2.381"},{"key":"e_1_2_6_8_1","first-page":"5","article-title":"Pathology and natural history of congenital pseudarthrosis of the tibia","volume":"166","author":"Boyd HB","year":"1982","journal-title":"Clin Orthop"},{"key":"e_1_2_6_9_1","first-page":"261","article-title":"Generalized osteopenia in Neurofibromatosis Type 1 patients points to an underlying disorder of skeletal homeostatis and mineralization","volume":"73","author":"Brunetti\u2010Pierri N","year":"2003","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","first-page":"289","article-title":"Radiographic characteristics of lower\u2010extremity bowing in children","volume":"112","author":"Cheema J","year":"2003","journal-title":"Radiographics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199805000-00020"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<317::AID-AJMG7>3.0.CO;2-X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-198601000-00015"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.5435\/00124635-199907000-00002"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.3.608"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01578257"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200001010-00013"},{"key":"e_1_2_6_18_1","first-page":"305","article-title":"An analysis of variation in expression of Neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes","volume":"53","author":"Easton DF","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_1","first-page":"1221","article-title":"MR imaging of metastatic GI adenocarcinoma in brain","volume":"13","author":"Egelhoff JC","year":"1992","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_6_20_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1302\/0301-620X.69B1.3102498","article-title":"The elephant woman. 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