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Familial occurrence in the former born to presumably nonconsanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both had apparently normal chromosomes; however, the Lybian infant had slightly increased induced chromosome breakage suggesting that this rare multiple congenital anomalies syndrome may involve a DNA repair defect. Virtual absence of atelen\/aprosencephalic structures may lead to an arthrogryposis\u2010like prenatal movement disorder. The orbital tumor in the Utah infant consisted of dystopic neural tissue compressing a rudimentary globe and was connected by a thin bridge of neural tissue to the small mass of disorganized brain tissue usually found in atelen\/aprosencephalic infants and fetuses. No evidence of an encephaloclastic process was found in the autopsied Utah infant. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30600","type":"journal-article","created":{"date-parts":[[2005,10,5]],"date-time":"2005-10-05T20:17:48Z","timestamp":1128543468000},"page":"401-410","source":"Crossref","is-referenced-by-count":7,"title":["XK\u2010aprosencephaly and related entities"],"prefix":"10.1002","volume":"138A","author":[{"given":"G.","family":"Renzetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Villani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Bizzarri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Chessa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Vignati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gianotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana","family":"Szakacs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette J.","family":"Townsend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice L.","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,10,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-218"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030312"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340224"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060090096024"},{"key":"e_1_2_5_6_1","first-page":"181","article-title":"Cleft lip and jaw induced in fetal rat by vincristine","volume":"48","author":"DeMeyer WE","year":"1965","journal-title":"Arch Anat Histol Embryol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<542::AID-AJMG6>3.0.CO;2-Q"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.3.285"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07973.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470418"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900416"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10183"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb08000.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308719"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<144::AID-AJMG8>3.0.CO;2-U"},{"key":"e_1_2_5_16_1","first-page":"3","article-title":"Genetic syndromes of multiple congenital malformations","volume":"39","author":"Lazjuk GI","year":"1977","journal-title":"Arkh Patol (Moscow)"},{"key":"e_1_2_5_17_1","volume-title":"Anencephaly","author":"Lemire RJ","year":"1978"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420230304"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030310"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070216"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110316"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<291::AID-AJMG3>3.0.CO;2-T"},{"key":"e_1_2_5_23_1","unstructured":"OMIM.Aprosencephaly and cerebellar dysgenesis. 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