{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T14:10:18Z","timestamp":1765807818051,"version":"3.44.0"},"reference-count":28,"publisher":"BMJ","issue":"2","funder":[{"name":"Trinity Hoblit Foundation"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J NeuroIntervent Surg"],"accepted":{"date-parts":[[2020,5,16]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Microcephalic primordial dwarfism (MPD) is a heterogeneous group of rare disorders. Recent studies have reported a significant percentage of patients with MPD suffering from a spectrum of cerebrovascular abnormalities, including intracranial aneurysms (IAs) and moyamoya syndrome. The neurological literature has not as yet specifically assessed IAs in this population. This systematic review aimed to assess the clinical behavior, characteristics, treatment modalities and outcomes of IAs in patients with MPD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed a systematic search in PubMed, Ovid MEDLINE and Ovid EMBASE for cases of MPD with IAs. We included three illustrative cases from our institution.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Twenty-four patients with 71 aneurysms were included in this study. Twelve patients (50%) presented with subarachnoid hemorrhage. The majority of patients were aged \u226418 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3\u2009(IQR 1.8\u20136) mm, and the most frequent locations were the internal carotid (37.3%) and middle cerebral arteries (23.8%). Concomitant moyamoya disease was reported in nine (37.5%) patients. Median age of aneurysm detection in screened patients was significantly lower than in non-screened patients (P=0.02). Microsurgical clipping (55.3%) and endovascular coiling (26.3%) were the most used modalities. Twenty-two cases were managed conservatively. Overall, mortality occurred in 45.8% of cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Screening for cerebrovascular disease seems reasonable and effective to detect aneurysms at an earlier age in this population. Efforts in the literature to emphasize early and regular screening for these patients can positively impact outcomes in this population, however more evidence is needed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/neurintsurg-2020-016069","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T17:25:17Z","timestamp":1591809917000},"page":"171-176","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6827-6650","authenticated-orcid":false,"given":"Andre","family":"Monteiro","sequence":"first","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo M","family":"Cortez","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel F","family":"Granja","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilherme J","family":"Agnoletto","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Kranich","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus Vinicius R","family":"Padilha","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Aldana","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery, University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7195-5806","authenticated-orcid":false,"given":"Ricardo","family":"Hanel","sequence":"additional","affiliation":[{"name":"Baptist Neurological Institute - Department of Cerebrovascular Surgery, Lyerly Neurosurgery, Jacksonville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,6,10]]},"reference":[{"key":"2025092911451089000_13.2.171.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30203"},{"key":"2025092911451089000_13.2.171.2","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-017-0348-1"},{"key":"2025092911451089000_13.2.171.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120103"},{"key":"2025092911451089000_13.2.171.4","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0","article-title":"Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review","volume":"80","author":"Majewski","year":"1998","journal-title":"Am J Med Genet"},{"key":"2025092911451089000_13.2.171.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120105"},{"key":"2025092911451089000_13.2.171.6","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1002\/ajmg.1320430326","article-title":"Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)","volume":"43","author":"Taybi","year":"1992","journal-title":"Am J Med Genet"},{"key":"2025092911451089000_13.2.171.7","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"2025092911451089000_13.2.171.8","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.pediatrneurol.2012.12.010","article-title":"Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal","volume":"48","author":"Perry","year":"2013","journal-title":"Pediatr Neurol"},{"key":"2025092911451089000_13.2.171.9","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ajmg.a.31009","article-title":"Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies","volume":"139","author":"Brancati","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025092911451089000_13.2.171.10","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/ajmg.a.33252","article-title":"Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype","volume":"152A","author":"Bober","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025092911451089000_13.2.171.11","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s004670050623","article-title":"Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism)","volume":"13","author":"Sorof","year":"1999","journal-title":"Pediatr Nephrol"},{"key":"2025092911451089000_13.2.171.12","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1310-z"},{"key":"2025092911451089000_13.2.171.13","doi-asserted-by":"publisher","DOI":"10.3171\/2008.12.PEDS08205"},{"key":"2025092911451089000_13.2.171.14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.4103\/JPN.JPN_96_17","article-title":"Endovascular treatment of a patient with moyamoya disease and Seckel syndrome: a case report","volume":"13","author":"Gunesli","year":"2018","journal-title":"J Pediatr Neurosci"},{"key":"2025092911451089000_13.2.171.15","first-page":"421","article-title":"Seckel's syndrome and mutiple intracranial aneurysms:a new phenotypic element","volume":"16","author":"Maffei","year":"2003","journal-title":"Neuroradiologia"},{"key":"2025092911451089000_13.2.171.16","doi-asserted-by":"publisher","DOI":"10.3171\/2009.6.PEDS08137"},{"key":"2025092911451089000_13.2.171.17","doi-asserted-by":"publisher","DOI":"10.1186\/s13643-016-0384-4"},{"key":"2025092911451089000_13.2.171.18","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050181"},{"key":"2025092911451089000_13.2.171.19","doi-asserted-by":"publisher","DOI":"10.1136\/bmjebm-2017-110853"},{"key":"2025092911451089000_13.2.171.20","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1007\/s00431-014-2368-5","article-title":"Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome","volume":"173","author":"Dieks","year":"2014","journal-title":"Eur J Pediatr"},{"key":"2025092911451089000_13.2.171.21","doi-asserted-by":"crossref","first-page":"717","DOI":"10.3171\/2016.6.PEDS16243","article-title":"Surgical outcomes of Majewski osteodysplastic primordial dwarfism type II with intracranial vascular anomalies","volume":"25","author":"Teo","year":"2016","journal-title":"J Neurosurg Pediatr"},{"key":"2025092911451089000_13.2.171.22","doi-asserted-by":"publisher","DOI":"10.3171\/2014.9.PEDS14333"},{"key":"2025092911451089000_13.2.171.23","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1007\/s00381-014-2423-6","article-title":"Patterns of treatment and associated short-term outcomes of unruptured intracranial aneurysms in children","volume":"30","author":"Asaithambi","year":"2014","journal-title":"Childs Nerv Syst"},{"key":"2025092911451089000_13.2.171.24","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1587"},{"key":"2025092911451089000_13.2.171.25","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-004-1125-x"},{"key":"2025092911451089000_13.2.171.26","doi-asserted-by":"publisher","DOI":"10.1136\/neurintsurg-2018-014001"},{"key":"2025092911451089000_13.2.171.27","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1007\/s11011-015-9712-y","article-title":"Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms","volume":"30","author":"Li","year":"2015","journal-title":"Metab Brain Dis"},{"key":"2025092911451089000_13.2.171.28","doi-asserted-by":"publisher","DOI":"10.3171\/2014.4.PEDS13464"}],"container-title":["Journal of NeuroInterventional Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/neurintsurg-2020-016069","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T18:45:20Z","timestamp":1759171520000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnis.bmj.com\/lookup\/doi\/10.1136\/neurintsurg-2020-016069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,10]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,1,26]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/neurintsurg-2020-016069"],"URL":"https:\/\/doi.org\/10.1136\/neurintsurg-2020-016069","relation":{},"ISSN":["1759-8478","1759-8486"],"issn-type":[{"type":"print","value":"1759-8478"},{"type":"electronic","value":"1759-8486"}],"subject":[],"published":{"date-parts":[[2020,6,10]]}}}