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However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T&gt;C,p.Tyr361His) was found in <jats:italic>OFD1<\/jats:italic>, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of <jats:italic>OFD1<\/jats:italic> gene and <jats:italic>Shh<\/jats:italic> pathway in the pathogenesis of these anomalies.<\/jats:p>","DOI":"10.1007\/s10072-021-05221-2","type":"journal-article","created":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T20:02:55Z","timestamp":1617739375000},"page":"5433-5439","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management"],"prefix":"10.1007","volume":"42","author":[{"given":"Marco","family":"Pavanello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6034-5524","authenticated-orcid":false,"given":"Pietro","family":"Fiaschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Tortora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Piatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,6]]},"reference":[{"key":"5221_CR1","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1080\/13816810801901876","volume":"29","author":"BJ Lee","year":"2008","unstructured":"Lee BJ, Traboulsi EI (2008) Update on the morning glory disc anomaly. 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