{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T12:10:35Z","timestamp":1696767035422},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T00:00:00Z","timestamp":1470096000000},"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":[[2016,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord\/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that prompted spinal imaging with MRI. Of all patients with HME seen in the Midwest Regional Bone Dysplasia Clinic from 1982 to present, 44% (17\/39) of patients had signs or symptoms concerning for possible cord\u2010related neurological findings. However, only 10 of 39 had spinal imaging. Assuming that all individuals with syringomyelia were identified, then 5\/39 (13%) were in that way affected. This, of course, is a minimal estimate given that many were not imaged. The incidence of syringomyelia appears to be increased in this population, and seems to be unrelated to spinal osteochondromas. A low threshold for obtaining spinal MRI in patients with Hereditary Multiple Exostosis seems rational. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37854","type":"journal-article","created":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T12:29:06Z","timestamp":1470227346000},"page":"2956-2959","source":"Crossref","is-referenced-by-count":1,"title":["Syringomyelia in hereditary multiple exostosis"],"prefix":"10.1002","volume":"170","author":[{"given":"Janet M.","family":"Legare","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism Department of Pediatrics University of Wisconsin Madison Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peggy","family":"Modaff","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Department of Pediatrics University of Wisconsin Madison Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bermans J.","family":"Iskandar","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery University of Wisconsin Madison Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Department of Pediatrics University of Wisconsin Madison Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-137"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-3"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2005.081240"},{"key":"e_1_2_5_5_1","first-page":"71","article-title":"Genetic heterogeneity in families with hereditary multiple exostoses","volume":"53","author":"Cook A","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otsr.2010.06.013"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.H.00762"},{"key":"e_1_2_5_8_1","first-page":"392","volume-title":"Principles and practice of pediatric neurosurgery, 3e","author":"Rocque B","year":"2012"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.08.045"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199407000-00005"},{"key":"e_1_2_5_11_1","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1093\/med\/9780195396089.003.0145","volume-title":"An atlas of genetic disorders of skeletal development","author":"Spranger JW","year":"2012"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-25"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0000000000000074"},{"key":"e_1_2_5_14_1","first-page":"3","article-title":"Syringomyelia","volume":"45","author":"Vandertop WP","year":"2014","journal-title":"Neuropediatrics"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37854","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:12Z","timestamp":1696648392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,2]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37854"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37854","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,2]]}}}