{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:13:44Z","timestamp":1777493624522,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,6,5]],"date-time":"2009-06-05T00:00:00Z","timestamp":1244160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported over the past 20 years, all of them being males. Of the patients described here, some have unreported findings such as vermian hypoplasia in one and prolonged survival into adulthood in two. Two patients developed central diabetes insipidus. All were mentally retarded. No abnormalities were found at the cytogenetic level, including array CGH in two. No known genes for holoprosencephaly or ectrodactyly were found, including <jats:italic>GLI2<\/jats:italic>. The cause of Hartsfield syndrome is unknown. An X\u2010linked defect is possible, although no recurrences have been described to date. Our observations almost double the number of cases. They underscore the usefulness of fetal brain imaging in the differential diagnosis of syndromal clefting diagnosed in utero, particularly when ectrodactyly\u2013ectodermal dysplasia\u2010clefting syndrome is suspected. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32678","type":"journal-article","created":{"date-parts":[[2009,6,6]],"date-time":"2009-06-06T11:11:02Z","timestamp":1244286662000},"page":"1476-1481","source":"Crossref","is-referenced-by-count":18,"title":["Hartsfield holoprosencephaly\u2013ectrodactyly syndrome in five male patients: Further delineation and review"],"prefix":"10.1002","volume":"149A","author":[{"given":"Catheline","family":"Vilain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Van Vliet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Heinrichs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deephti","family":"de Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,6,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190322"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051026"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20295"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<423::AID-AJMG12>3.0.CO;2-K"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(99)80072-4"},{"key":"e_1_2_6_9_1","first-page":"27","article-title":"Hypertelorism associated with holoprosencephaly and ectrodactyly","volume":"2","author":"Hartsfield J","year":"1984","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00011"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1542\/peds.79.3.410","article-title":"Growth hormone deficiency associated with the ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome and isolated absent septum pellucidum","volume":"79","author":"Knudtzon J","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"e_1_2_6_14_1","first-page":"893","article-title":"Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip\u2010palate syndrome","volume":"7","author":"Ronconi GF","year":"1985","journal-title":"Pediatr Med Chir"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1992.tb12246.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199201000-00008"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32678","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T19:45:33Z","timestamp":1697053533000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,5]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["10.1002\/ajmg.a.32678"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32678","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,5]]}}}