{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:27:25Z","timestamp":1763036845112},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"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":[[2014,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36727","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T20:53:02Z","timestamp":1411419182000},"page":"2947-2951","source":"Crossref","is-referenced-by-count":10,"title":["Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum"],"prefix":"10.1002","volume":"164","author":[{"given":"Deniz","family":"Aslan","sequence":"first","affiliation":[{"name":"Section of Hematology, Department of Pediatrics, Faculty of Medicine Gazi University Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rustu Fikret","family":"Akata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Faculty of Medicine Gazi University Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Centre of the Johannes Gutenberg University Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Happle","sequence":"additional","affiliation":[{"name":"Department of Dermatology Freiburg University Medical Center Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Moog","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Heidelberg Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Centre of the Johannes Gutenberg University Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31969"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2012.11.006"},{"key":"e_1_2_5_4_1","first-page":"1607","article-title":"MR imaging of the spine in epidermal nevus syndrome","volume":"23","author":"Booth TN","year":"2002","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200404000-00005"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34294"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530403"},{"key":"e_1_2_5_8_1","first-page":"19","article-title":"Encephalocraniocutaneous lipomatosis. 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