{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:05:38Z","timestamp":1792148738469,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4801,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X\u2010linked inheritance with variable expression in females. These findings are inconsistent with the well\u2010described X\u2010linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin\u2010Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females.<\/jats:p><jats:p>In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X\u2010linked probes suggests linkage with a LOD score of 1.26 at \u03b8=0 to a region between p 11.3 and p 21.3.<\/jats:p>","DOI":"10.1002\/ajmg.1320430169","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"458-466","source":"Crossref","is-referenced-by-count":49,"title":["New X\u2010linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum"],"prefix":"10.1002","volume":"43","author":[{"given":"Virginia K.","family":"Proud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clive","family":"Levine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy J.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.23.11141"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196103092641004"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300154"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180203"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.122"},{"key":"e_1_2_1_7_1","unstructured":"McKusickVA(1991) Online Mendelian Inheritance in Man (OMIM)."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1964.00460200094009"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300132"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200576"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300127"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03297.x"},{"key":"e_1_2_1_13_1","first-page":"772","volume-title":"Handbook of Clinical Neurology","author":"Vinken PJ","year":"1981"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380213"},{"key":"e_1_2_1_15_1","unstructured":"WinterR BaraitserM(1991)London Dysmorphology Database."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430169","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:17:19Z","timestamp":1693502239000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4,15]]},"references-count":14,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1992,4,15]]}},"alternative-id":["10.1002\/ajmg.1320430169"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430169","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4,15]]}}}