{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T21:58:31Z","timestamp":1772661511864,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,11,9]],"date-time":"2006-11-09T00:00:00Z","timestamp":1163030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:p><jats:bold>ABSTRACT\u2003<\/jats:bold> Holoprosencephaly (HPE) is one of the major brain anomalies caused by the failure of cleavage of the prosencephalon during the early stage of development. Over 200\u2003cases of HPE in the Kyoto Collection of Human Embryos were observed grossly and histologically, with special emphasis on the anomalies of the brain, face and eye. The facial anomalies of HPE human embryos after Carnegie stage (CS)\u200318 could be classified into cyclopia, synophthalmia, ethmocephaly, cebocephaly, and premaxillary agenesis, similarly as the classical classification for postnatal cases. On the other hand, HPE embryos at CS 13\u201317 showed some characteristic facies which are different from those in older embryos. In the present paper, pathology and phenotypic variability in HPE embryos were discussed from the embryopathological point of view. Recently, the molecular mechanism of HPE has been clarified by the techniques of gene manipulation, and various HPE genes have been identified by gene analysis of familial HPE cases. HPE is one of the major CNS anomalies which have been extensively studied and provides a clue to the mechanisms of normal and abnormal development of craniofacial structures.<\/jats:p>","DOI":"10.1111\/j.1741-4520.2006.00123.x","type":"journal-article","created":{"date-parts":[[2006,11,9]],"date-time":"2006-11-09T10:21:19Z","timestamp":1163067679000},"page":"164-171","source":"Crossref","is-referenced-by-count":10,"title":["Embryonic holoprosencephaly: pathology and phenotypic variability"],"prefix":"10.1111","volume":"46","author":[{"given":"Shigehito","family":"Yamada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,11,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.02.002"},{"key":"e_1_2_8_3_1","first-page":"431","article-title":"Middle interhemispheric fusion: An unusual variant of holoprosencephaly","volume":"14","author":"Barkovich AJ","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.791"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/2484"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"e_1_2_8_10_1","first-page":"240","volume-title":"Inborn Errors of Development","author":"Cohen MM","year":"2004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10258"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000104278"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.34.2.256"},{"key":"e_1_2_8_15_1","first-page":"431","volume-title":"Handbook of Clinical Neurology","author":"DeMyer WE","year":"1977"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2003.tb01022.x"},{"key":"e_1_2_8_17_1","first-page":"1","article-title":"The early development of morphology and patterns of the face in the human embryo","volume":"98","author":"Hinrichsen K","year":"1985","journal-title":"Adv Anat Embryol Cell Biol"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.21.4873"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00698663"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691523"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.4.388"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02162203"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388600100102"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000070207"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090030406"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000037483.31989.B9"},{"key":"e_1_2_8_27_1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1242\/dev.124.3.603","article-title":"A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate","volume":"124","author":"Li H","year":"1997","journal-title":"Development"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420160304"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_8_30_1","first-page":"6203","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Muenke M","year":"2001"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001850404"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_8_33_1","first-page":"349","volume-title":"Aging Gamates","author":"Nishimura H","year":"1975"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420010306"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400502"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.8.1593"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-005-3047-7"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.1991.tb00360.x"},{"key":"e_1_2_8_41_1","first-page":"261","article-title":"Computerized three\u2010dimensional reconstruction of the brain of normal and holoprosencephalic human embryos","volume":"29","author":"Shiota K","year":"1993","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_8_42_1","first-page":"151","article-title":"The middle interhemispheric variant of holoprosencephaly","volume":"23","author":"Simon EM","year":"2002","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420420404"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-193811000-00047"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.28.718.455"},{"key":"e_1_2_8_46_1","first-page":"473","article-title":"The experimental production of various eye abnormalities and an analysis of the development of the primary parts of the eye","volume":"1","author":"Stockard CR","year":"1910","journal-title":"Arch Vergl Ophth"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230088"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.3.377"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20048"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1741-4520.2006.00123.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1741-4520.2006.00123.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T05:09:01Z","timestamp":1697000941000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2006.00123.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,9]]},"references-count":48,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["10.1111\/j.1741-4520.2006.00123.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1741-4520.2006.00123.x","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,9]]}}}