{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T08:56:41Z","timestamp":1762160201180},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,5,17]],"date-time":"2004-05-17T00:00:00Z","timestamp":1084752000000},"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":[[2004,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 7\u2010month\u2010old boy with Micro syndrome who was referred for assessment of mental\u2010motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis\/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro\u2010oculo\u2010facio\u2010skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu\u2013Laxova syndrome; Lenz microphthalmia syndrome; and Smith\u2013Lemli\u2013Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Min\u00f6r anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30109","type":"journal-article","created":{"date-parts":[[2004,5,17]],"date-time":"2004-05-17T16:01:10Z","timestamp":1084809670000},"page":"232-234","source":"Crossref","is-referenced-by-count":25,"title":["Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Murat","family":"Derbent","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar Is\u0131k","family":"Agras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015eansal","family":"Gedik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibel","family":"Oto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00fcsun","family":"Alehan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00dcmit","family":"Saat\u00e7i","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00540-6"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441986"},{"key":"e_1_2_4_6_1","first-page":"637","article-title":"Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: A second family with micro syndrome or a new syndrome?","volume":"36","author":"M\u00e9garban\u00e9 A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.7.604"},{"key":"e_1_2_4_8_1","first-page":"241","article-title":"A second family with Micro syndrome","volume":"8","author":"Rodr\u00edguez Criado G","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_4_9_1","first-page":"277","article-title":"Clinical outcomes of consanguineous marriages in Turkey","volume":"43","author":"Tuncbilek E","year":"2001","journal-title":"Turk J Pediatr"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1993.02160360051017"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T11:51:39Z","timestamp":1705146699000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,17]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,7,30]]}},"alternative-id":["10.1002\/ajmg.a.30109"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30109","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,17]]}}}