{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T09:23:28Z","timestamp":1778750608097,"version":"3.51.4"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[1995,10,1]],"date-time":"1995-10-01T00:00:00Z","timestamp":812505600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Stanford Marfan Syndrome Clinic"},{"name":"NIH","award":["HL40205 and DK45226"],"award-info":[{"award-number":["HL40205 and DK45226"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1995,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteopenia at the hip and low total body calcium content have been reported in women with Marfan syndrome. Using dual X-ray absorptiometry (DXA), we evaluated the lumbar spine L2-L4 and proximal femur bone mineral density (BMD, g\/cm2) in 32 women and 16 children with Marfan syndrome. The women were 38 \u00b1 10 (SD) years old (23\u201358 years); their mean height was 178.6 \u00b1 8 cm. The children (9 boys and 5 girls) were 9.9\u201317.5 years old. Children were tall for their ages but of normal weight. All subjects were moderately active, without previous nontraumatic fracture. In the women, BMD was reduced at L2\u2013L4, femoral neck (fnk), trochanter (tr), and intertrochanter (intr) (p &amp;lt; 0.0001\u20130.006), compared with age-predicted values. Z scores for L2\u2013L4 and for the fnk, tr, and intr, were \u20130.59 \u00b1 1.06, \u20131.25 \u00b1 0.99, \u20131.03 \u00b1 1.10, and \u20131.31 \u00b1 0.91, respectively. The average hip axis length (HAL) of 11.5 \u00b1 0.093 cm was at the 80th percentile for women. No significant change was observed in 1 year follow-up BMD measurements in 13 women (fnk = \u20130.23 \u00b1 23%\/year, L2\u2013L4 = \u20130.43 \u00b1 1.57%\/year). In Marfan children, BMD correlated with age, height, and pubertal development. Femoral neck BMD was reduced (Z = \u20130.74 \u00b1 1.22, p &amp;lt; 0.05) with a nonsignificant trend toward decreased BMD at L2\u2013L4 (Z = \u20130.33 \u00b1 1.48). Resorption markers in Marfan women were normal and did not correlate with bone status. We conclude that women with Marfan syndrome have both axial and peripheral osteopenia as well as an increased HAL. This combination of findings likely increases substantially their long-term risk for hip fracture. Presence of osteopenia in Marfan children indicates that the skeletal deficits of Marfan syndrome may reflect inadequate bone acquisition.<\/jats:p>","DOI":"10.1002\/jbmr.5650101017","type":"journal-article","created":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T16:01:16Z","timestamp":1265212876000},"page":"1550-1555","source":"Crossref","is-referenced-by-count":53,"title":["The bone mineral status of patients with marfan syndrome"],"prefix":"10.1093","volume":"10","author":[{"given":"Lynn","family":"Kohlmeier","sequence":"first","affiliation":[{"name":"The Department of Medicine, Stanford University Medical Center, Stanford, California"},{"name":"Musculoskeletal Research Laboratory, GRECC, VA Medical Center, Palo Alto, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryll","family":"Gasner","sequence":"additional","affiliation":[{"name":"The Department of Medicine, Stanford University Medical Center, Stanford, California"},{"name":"The Marfan Syndrome Clinic, Stanford University Medical Center, Stanford, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura K.","family":"Bachrach","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics, Stanford University Medical Center, Stanford, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Marcus","sequence":"additional","affiliation":[{"name":"The Department of Medicine, Stanford University Medical Center, Stanford, California"},{"name":"Musculoskeletal Research Laboratory, GRECC, VA Medical Center, Palo Alto, California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1995,10,1]]},"reference":[{"key":"2024013113141969400_bib1","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1056\/NEJM199010043231402","article-title":"Location on chromosome 15 of the gene defect causing Marfan syndrome","volume":"323","author":"Kainulainen","year":"1990","journal-title":"New Engl J Med"},{"key":"2024013113141969400_bib2","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/352279a0","article-title":"The defect in Marfan syndrome","volume":"353","author":"McKusick","year":"1991","journal-title":"Nature"},{"key":"2024013113141969400_bib3","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/0888-7543(91)90142-2","article-title":"Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1","volume":"11","author":"Magenis","year":"1991","journal-title":"Genomics"},{"key":"2024013113141969400_bib4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/00019616-199307000-00008","article-title":"The Marfan Syndrome","volume":"3","author":"Maslen","year":"1993","journal-title":"Endocrinology"},{"key":"2024013113141969400_bib5","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1056\/NEJM199405123301902","article-title":"Progression of aortic dilatation and the benefit of long-term \u03b2-adrenergic blockade in Marfan's syndrome","volume":"330","author":"Shores","year":"1994","journal-title":"New Engl J Med"},{"key":"2024013113141969400_bib6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.2214\/ajr.155.1.2112876","article-title":"Musculoskeletal manifestation of the Marfan syndrome: radiologic features","volume":"155","author":"Magid","year":"1990","journal-title":"Am J Roentgenol"},{"key":"2024013113141969400_bib7","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/0002-9343(93)90351-O","article-title":"Bone mineral status of women with Marfan syndrome","volume":"95","author":"Kohlmeier","year":"1993","journal-title":"Am J Med"},{"key":"2024013113141969400_bib8","author":"Child","year":"1993"},{"key":"2024013113141969400_bib9","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1083\/jcb.103.6.2499","article-title":"Fibrillin, a new 350 KD glycoprotein, is a component of extracellular microfibrils","volume":"103","author":"Sakai","year":"1986","journal-title":"Cell Biol"},{"key":"2024013113141969400_bib10","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1177\/39.1.1983874","article-title":"Human bone contains Type III collagen. 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