{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T07:10:33Z","timestamp":1695798633342},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,3,2]],"date-time":"2016-03-02T00:00:00Z","timestamp":1456876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report the unusual association between a nasoethmoidal meningocele and CCAM type II in a fetus exposed to valproic acid and misoprostol. The mother was an 18\u2010year\u2010old woman on her first pregnancy. She had a history of absence seizures since she was 5 years old. She took valproic acid from the beginning of the gestation until the end of the third month. At the end of the third month, she attempted interruption of her pregnancy using misoprostol. The fetal nasoethmoidal meningocele and CCAM type II were identified through morphological ultrasound examination and magnetic resonance imaging. A genome\u2010wide study detected one copy number variation classified as rare, entirely contained into the <jats:italic>SPATA5<\/jats:italic> gene. However, it does not seem to be associated to the clinical findings of the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb defects, were not observed in our case. Further reports will be very important to better understand the associations described in our study. Birth Defects Research (Part A) 106:225\u2013231, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23452","type":"journal-article","created":{"date-parts":[[2016,3,2]],"date-time":"2016-03-02T06:22:50Z","timestamp":1456899770000},"page":"225-231","source":"Crossref","is-referenced-by-count":2,"title":["Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?"],"prefix":"10.1002","volume":"106","author":[{"given":"Ernani B.","family":"da Rosa","sequence":"first","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dani\u00e9lle B.","family":"Silveira","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"La\u00eds G.","family":"Tsugami","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, UFCSPA  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan L.","family":"Bell\u00e9","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, UFCSPA  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabelle O.","family":"Matos","sequence":"additional","affiliation":[{"name":"Pediatrics, Hospital Materno Infantil Presidente Vargas (HMIPV)  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciano V.","family":"Targa","sequence":"additional","affiliation":[{"name":"Radiology, HMIPV, and Tomocl\u00ednica  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosilene da S.","family":"Betat","sequence":"additional","affiliation":[{"name":"Fetal Medicine, HMIPV  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 C.","family":"da Cunha","sequence":"additional","affiliation":[{"name":"Fetal Medicine, HMIPV  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolando A.R.","family":"Villacis","sequence":"additional","affiliation":[{"name":"Neogene Laboratory Research Center (CIPE), AC Camargo Cancer Center  SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00edlvia R.","family":"Rogatto","sequence":"additional","affiliation":[{"name":"Neogene Laboratory Research Center (CIPE), AC Camargo Cancer Center  SP Brazil"},{"name":"Department of Urology School of Medicine, UNESP \u2010 S\u00e3o Paulo State University  SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiza E.","family":"Dorfman","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael F. 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