{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:07:17Z","timestamp":1758161237426,"version":"3.44.0"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A complete ophthalmic examination is not routinely performed on infants with Miller\u2013Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein\u2013Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy. While ocular abnormalities are more prevalent and severe in other lissencephalopathies, the PPR in these MDS infants underscores the sight-saving potential of performing an ophthalmologic exam with early molecular testing for all lissencephaly infants.<\/jats:p>","DOI":"10.1055\/s-0037-1612638","type":"journal-article","created":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T18:39:07Z","timestamp":1514572747000},"page":"086-091","source":"Crossref","is-referenced-by-count":2,"title":["Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller\u2013Dieker Syndrome"],"prefix":"10.53391","volume":"07","author":[{"given":"Omar","family":"Shoukfeh","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonard","family":"Prouty","sequence":"first","affiliation":[{"name":"Departments of Pathology and Pediatrics, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hinrichsen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Spencer","sequence":"first","affiliation":[{"name":"Texas Retina Associates, Dallas, Texas, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlyn","family":"Langford","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Richards","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2017,12,29]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1612638.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:33Z","timestamp":1758138333000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1612638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,29]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2018,4,25]]},"published-print":{"date-parts":[[2018,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1612638","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2017,12,29]]}}}