{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:09:45Z","timestamp":1761016185325,"version":"3.38.0"},"reference-count":16,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p> We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea. <\/jats:p>","DOI":"10.1007\/s10024-002-2106-2","type":"journal-article","created":{"date-parts":[[2002,12,6]],"date-time":"2002-12-06T19:25:52Z","timestamp":1039202752000},"page":"592-596","source":"Crossref","is-referenced-by-count":12,"title":["Newborn with Anophthalmia and Features of Fryns Syndrome"],"prefix":"10.1177","volume":"5","author":[{"given":"Diane M.","family":"Pierson","sequence":"first","affiliation":[{"name":"Department of Pathology, Truman Medical Center, Kansas City, MO, USA"},{"name":"School of Medicine, University of Missouri\u2014Kansas City, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Subtil","sequence":"additional","affiliation":[{"name":"Department of Pathology, Truman Medical Center, Kansas City, MO, USA"},{"name":"School of Medicine, University of Missouri\u2014Kansas City, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenio","family":"Taboada","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA"},{"name":"School of Medicine, University of Missouri\u2014Kansas City, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO 64108-9898, USA"},{"name":"School of Medicine, University of Missouri\u2014Kansas City, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2002,11,1]]},"reference":[{"key":"bibr1-s10024-002-2106-2","first-page":"1440","volume-title":"Pediatric Pathology","author":"Stocker JT","year":"2001"},{"key":"bibr2-s10024-002-2106-2","unstructured":"On-line Mendelian Inheritance in Man (OMIM). 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