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Eighteen children with NF1 without focal bony lesions were compared to unaffected siblings and local population controls. Bone mineral content at the lumbar spine and proximal femur (dual energy X\u2010ray absorptiometry (DXA)) was lower in children with NF1; this difference persisted after adjusting for height and weight. Peripheral quantitative computed tomography (pQCT) of the distal tibia showed that trabecular density was more severely compromised than cortical. Peripheral QCT\u2010derived estimates of bone strength and resistance to bending and stress were poorer among children with NF1 although there was no difference in fracture frequencies. There were no differences in the size or shape of bones after adjusting for height. Differences in markers of bone turnover between cases and controls were in the directions predicted by animal studies, but did not reach statistical significance. Average serum calcium concentration was higher (although within the normal range) in children with NF1; serum 25\u2010OH vitamin D, and PTH levels did not differ significantly between cases and controls. Children with NF1 were less mature (assessed by pubertal stage) than unaffected siblings or population controls. Children with NF1 have a generalized difference of bone metabolism that predominantly affects trabecular bone. Effects of decreased neurofibromin on bone turnover, calcium homeostasis, and pubertal development may contribute to the differences in bone mineral content observed among people with NF1. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36001","type":"journal-article","created":{"date-parts":[[2013,5,25]],"date-time":"2013-05-25T05:46:46Z","timestamp":1369460806000},"page":"1654-1661","source":"Crossref","is-referenced-by-count":27,"title":["The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case\u2013control study"],"prefix":"10.1002","volume":"161","author":[{"given":"Linlea","family":"Armstrong","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver, BC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly","family":"Jett","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British 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