{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:01:24Z","timestamp":1791295284872,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"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":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100\u2009cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and\/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12\u201318 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re\u2010vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long\u2010term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33252","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:18:07Z","timestamp":1269627487000},"page":"960-965","source":"Crossref","is-referenced-by-count":82,"title":["Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype"],"prefix":"10.1002","volume":"152A","author":[{"given":"Michael B.","family":"Bober","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A.","family":"Feinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Charles I.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary K.","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.3171\/2009.1.FOCUS08302"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1253\/jcj.62.136"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31009"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30203"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1312-x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.41.37"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(94)90008-6"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.533620"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12028-007-9038-7"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0804622"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.3171\/FOC\/2008\/24\/2\/E16"}],"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.33252","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33252","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:23:21Z","timestamp":1697639001000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,26]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1002\/ajmg.a.33252"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33252","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,26]]}}}