{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:31Z","timestamp":1791327631536,"version":"4.3.1"},"reference-count":8,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.<\/jats:p>","DOI":"10.1136\/jmg.27.1.50","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"50-52","source":"Crossref","is-referenced-by-count":38,"title":["Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome."],"prefix":"10.1136","volume":"27","author":[{"given":"H","family":"Bachman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R D","family":"Clark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Salahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.1981.tb00718.x","article-title":"The hydrolethalus syndrome: delineation of a \"new\", lethal malformation syndrome based on 28 patients","volume":"19","author":"Salonen, R.; Herva, R.; Norio, R.","year":"1981","unstructured":"Salonen R, Herva R, Norio R. The hydrolethalus syndrome: delineation of a \"new\", lethal malformation syndrome based on 28 patients. Clin Genet 1981;19:321-30.","journal-title":"Clin Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/ajmg.1320260418","article-title":"Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation","volume":"26","author":"Anyane-Yeboa, K.; Collins, M.; Kupsky, W.; Maidman, J.; Malin, J.; Yeh, M.","year":"1987","unstructured":"Anyane-Yeboa K, Collins M, Kupsky W, Maidman J, Malin J, Yeh M. Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation. Am Med Genet 1987; 26:899-907.","journal-title":"Am Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1002\/ajmg.1320270421","article-title":"Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis","volume":"27","author":"Aughton, D.J.; Cassidy, S.B.","year":"1987","unstructured":"Aughton DJ, Cassidy SB. Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. Am Med Genet 1987;27:935-42.","journal-title":"Am Med Genet"},{"issue":"1","key":"ref_4","first-page":"411","article-title":"Ihe hydrolethalus syndrome","volume":"23","author":"Krassikoff, N.; Kolnick, L.; Gilbert, E.F.","year":"1987","unstructured":"Krassikoff N, Kolnick L, Gilbert EF. Ihe hydrolethalus syndrome. Birth Defects 1987;23(1):411-9.","journal-title":"Birth Defects"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1136\/jmg.24.11.714","article-title":"Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly","volume":"24","author":"Young, I.D.; Madders, D.J.","year":"1987","unstructured":"Young ID, Madders DJ. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly. Med Genet 1987;24:714-5.","journal-title":"Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1136\/jmg.25.7.501","article-title":"Holoprosencephaly and postaxial polydactyly: another observation","volume":"25","author":"Moerman, P.; Fryns, J.P.","year":"1988","unstructured":"Moerman P, Fryns JP. Holoprosencephaly and postaxial polydactyly: another observation. Med Genet 1988;25:501-2.","journal-title":"Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1136\/jmg.25.7.502","article-title":"Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo","volume":"25","author":"Shiota, K.; Tanimura, T.","year":"1988","unstructured":"Shiota K, Tanimura T. Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo. Med Genet 1988;25:502-3.","journal-title":"Med Genet"},{"key":"ref_8","first-page":"211","article-title":"and syndromology perspectives on holoprosencephaly. Part 1","volume-title":"Teratology","volume":"40","author":"Epidemiology, Cohen M.; genetics","year":"1989","unstructured":"Cohen M. Epidemiology, genetics, and syndromology perspectives on holoprosencephaly. Part 1. Teratology 1989;40:211-35."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.1.50","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:55:58Z","timestamp":1760770558000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.1.50"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,1]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1990,1,1]]},"published-print":{"date-parts":[[1990,1]]}},"alternative-id":["10.1136\/jmg.27.1.50"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.1.50","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,1]]}}}