{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:52Z","timestamp":1761101812616},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,10,30]],"date-time":"2007-10-30T00:00:00Z","timestamp":1193702400000},"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":[[2008,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hunter\u2013MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. The skeletal manifestations of HMS include short stature, scoliosis, epiphyseal dysplasia with early osteoarthritis leading to joint replacement, prominent humeral insertions for the deltoids, camptodactyly, subluxation of the thumbs, and malformed feet. Craniofacial manifestations include normal head circumference, tall forehead, bitemporal narrowing, ptosis, short palpebral fissures, and short philtrum. Decreased hearing acuity, transient cranial nerve palsies, congenital heart defects, and menigioma are also reported. Herein, we present two cases, and, through review of the manifestations of HMS in affected and at\u2010risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31998","type":"journal-article","created":{"date-parts":[[2007,10,30]],"date-time":"2007-10-30T20:18:00Z","timestamp":1193775480000},"page":"83-92","source":"Crossref","is-referenced-by-count":2,"title":["The Hunter\u2013MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review"],"prefix":"10.1002","volume":"146A","author":[{"given":"Linlea","family":"Armstrong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail E.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Neil","family":"Schimke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Kirse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona","family":"Costello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly H.","family":"Ardinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,19]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"92","article-title":"Delineation of the HMS","volume":"19","author":"Ardinger HH","year":"1999","journal-title":"Greenwood Genet Ctr"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng573"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1065-6995(03)00018-0"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10064"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.5070"},{"key":"e_1_2_5_7_1","first-page":"8","article-title":"Mild multiple epiphyseal dysplasia with subtle Dysmorphic features and joint limitation","volume":"3","author":"Hunter AGW","year":"1989","journal-title":"Dysmorph Clin Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.011429"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201314"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200057"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00167317"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006123-198606000-00028"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-12464"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489209137449"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302635"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200504000-00004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200309000-00017"}],"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.31998","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31998","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:10:27Z","timestamp":1697620227000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31998"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,19]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1002\/ajmg.a.31998"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31998","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,19]]}}}