{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:00:09Z","timestamp":1762160409613},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a pair of sibs with microcephaly, hypoplastic nose, cleft lip\/palate, a complicated Fallot\u2010like cardiac defect, and holoprosencephaly and polydactyly. One sib appeared to have normal chromosomes. The healthy parents were second cousins. This constellation of signs has been described before in at least 14 other patients, and was possibly present in several others. Although there is overlap with a number of similar conditions, especially hydrolethalus syndrome, this probably represents a separate entity. Three pairs of sibs and consanguinity in 3 families point to autosomal recessive pattern of inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320410226","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"258-262","source":"Crossref","is-referenced-by-count":16,"title":["Familial holoprosencephaly, heart defects, and polydactyly"],"prefix":"10.1002","volume":"41","author":[{"given":"Raoul C. M.","family":"Hennekam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard","family":"Van Noort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfred A.","family":"De La Fuente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"463","article-title":"Holoprosencephalie, polydactylie, cardiopathie: nouveau syndrome ou un nouveau cas d'hydrolethalus?","volume":"36","author":"Andr\u00e9 SA","year":"1988","journal-title":"J Genet Hum"},{"key":"e_1_2_1_3_1","unstructured":"AntichJ CusiV RuizJ TorrentM: (1990):Holoprosencephaly postaxial polydactyly and normal chromosomes: another observation. Proceedings of the First European Meeting on Dysmorphology pp26."},{"key":"e_1_2_1_4_1","first-page":"A36","article-title":"A new syndrome with cyclopia and trisomy 13 features","volume":"43","author":"Atkin JF","year":"1988","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.50"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","unstructured":"CohenMMJr GorlinRJ: (1991): Pseudo\u2010trisomy 13 syndrome.Am J Med Genet 38(in press).","DOI":"10.1002\/ajmg.1320390316"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_8_1","first-page":"64","article-title":"Stillborn white male\u201030 weeks (MG 2746)","volume":"7","author":"Donnai D","year":"1988","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280323"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01119.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445808"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03177.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330416"},{"key":"e_1_2_1_14_1","volume-title":"The Hydrolethalus Syndrome","author":"Krassikoff N","year":"1987"},{"key":"e_1_2_1_14_2","first-page":"411","volume":"23","author":"The National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","first-page":"78","article-title":"Holoprosencephaly, polydactyly, and lethal outcome\u2010another observation","volume":"8","author":"Meinecke P","year":"1989","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.501"},{"key":"e_1_2_1_17_1","unstructured":"RamaekersPR LegiusE VerloesA GillerotY VandenbergheK FrynsJP: (1991): Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.Eur J Obstet Gynecol Reprod Biol(in press)"},{"key":"e_1_2_1_18_1","first-page":"197","article-title":"Premaxillary agenesis, ocular hypotelorism, holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram","volume":"17","author":"Rowlatt U","year":"1980","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.502"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441926"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.714"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410226","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:13:13Z","timestamp":1698041593000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1002\/ajmg.1320410226"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410226","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}