{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:45:13Z","timestamp":1694756713531},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,9,4]],"date-time":"2016-09-04T00:00:00Z","timestamp":1472947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aplasia cutis congenita (<jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content>;<jats:styled-content style=\"fixed-case\"> MIM<\/jats:styled-content> 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial <jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content> and mega\u2010cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega\u2010cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging. Karyotype 46,<jats:styled-content style=\"fixed-case\">XX<\/jats:styled-content>, t(6;18)(q23.2;q11.2) was identified on G\u2010banded karyotype analysis of the patient and her father, after which whole exome sequencing was carried out, but this was thought to be a coincidental finding. This indicates that <jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content> may be associated with brain anomaly, although it is very rare.<\/jats:p>","DOI":"10.1111\/ped.13041","type":"journal-article","created":{"date-parts":[[2016,9,5]],"date-time":"2016-09-05T04:13:50Z","timestamp":1473048830000},"page":"1054-1056","source":"Crossref","is-referenced-by-count":0,"title":["Familial aplasia cutis congenita associated with mega\u2010cisterna magna"],"prefix":"10.1111","volume":"58","author":[{"given":"Eun Hye","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kyung Hee University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae Sung","family":"Park","sequence":"additional","affiliation":[{"name":"Laboratory Medicine Kyung Hee University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong\u2010Sung","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kyung Hee University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eun\u2010Hae","family":"Cho","sequence":"additional","affiliation":[{"name":"Green Cross Genome Yongin Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1985.tb00478.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03968.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2008.03884.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00262269"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.413"},{"key":"e_1_2_6_8_1","first-page":"556","article-title":"Extrait d'une lettre au sujet de trois enfants de la m\u00eame m\u00e8re n\u00e9s avec partie des extr\u00e9mit\u00e9s d\u00e9nu\u00e9e de peau","volume":"26","author":"Cordon M","year":"1767","journal-title":"J. Med. Chir. Pharm."},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32163"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp247"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.13041","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.13041","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.13041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T12:51:37Z","timestamp":1694695897000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.13041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,4]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/ped.13041"],"URL":"https:\/\/doi.org\/10.1111\/ped.13041","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,4]]}}}