{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:38:27Z","timestamp":1762673907961},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T00:00:00Z","timestamp":1364169600000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with osseous abnormalities occurring in up to one\u2010third of patients. Several studies have documented osteopenia in both children and adults with NF1; however, the significance of lower bone mineral density (BMD) in relationship to fracture incidence is not well elucidated in NF1, particularly in children. We undertook a retrospective study to determine prevalence and location of fractures in children and adolescents with NF1, ages 5\u201320 years, using a standardized questionnaire. We surveyed 256 individuals with NF1 from two multidisciplinary NF centers and 178 controls without NF1 of similar ages and sex. Participants with known long bone dysplasia (LBD) were analyzed separately. Data collected included numbers and location of fractures, dietary calcium intake, and physical activity levels. There was no difference in prevalence of ever having a fracture between the NF1 group without LBD (22%) and the control group (25%); median number of fractures also did not differ. There were significant differences in fracture location with a higher frequency of fractures of the lower extremities in NF1 individuals without LBD compared to controls. Both NF1 cohorts had lower rates of physical activity than controls (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). Our data demonstrate that the likelihood of having had a fracture is not higher in young NF1 individuals without LBD in comparison to healthy controls. The lower physical activity level may have a \u201cprotective effect\u201d for those with NF1, thus keeping their fracture incidence lower than expected for their relative degree of osteopenia. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35541","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T15:13:39Z","timestamp":1364224419000},"page":"921-926","source":"Crossref","is-referenced-by-count":23,"title":["Fractures in Children With Neurofibromatosis Type 1 From Two <scp>NF<\/scp> Clinics"],"prefix":"10.1002","volume":"161","author":[{"given":"Jaya K.","family":"George\u2010Abraham","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa J.","family":"Martin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi J.","family":"Kalkwarf","sequence":"additional","affiliation":[{"name":"Division of General and Community Pediatrics Cincinnati Children's Hospital Medical Center Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret B.","family":"Rieley","sequence":"additional","affiliation":[{"name":"Eastern Maine Medical Center Bangor, Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City, Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Viskochil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City, Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Austin M.","family":"Stevens","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City, Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Hanson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City, Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth K.","family":"Schorry","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1249\/00005768-199301000-00011"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3945\/jn.109.118539"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.12.004"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080303"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.040902"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.5435\/00124635-199907000-00002"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.bpb.0000271310.87997.ae"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.02.002"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33045"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2010.06.001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001980200137"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.290.11.1479"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-004-1801-4"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-005-1940-2"},{"key":"e_1_2_6_16_1","first-page":"1","article-title":"Fracture patterns in children. 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