{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:03Z","timestamp":1761717963758},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T00:00:00Z","timestamp":1111708800000},"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":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and\/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30662","type":"journal-article","created":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T20:16:55Z","timestamp":1111781815000},"page":"450-453","source":"Crossref","is-referenced-by-count":13,"title":["Malpuech syndrome: Three patients and a review"],"prefix":"10.1002","volume":"134A","author":[{"given":"W.S.","family":"Kerstjens\u2010Frederikse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.M.L.","family":"van Dael","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,3,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01900601"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1542\/peds.68.2.235","article-title":"New syndrome in three affected siblings","volume":"68","author":"Crane JP","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<294::AID-AJMG20>3.0.CO;2-2"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20507"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580104"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199207000-00009"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410407"},{"key":"e_1_2_4_11_1","first-page":"6","article-title":"Abnormal hair, craniofacial dysmorphism, and severe mental retardation\u2014a new syndrome?","volume":"1","author":"Killian W","year":"1983","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1988.tb02748.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199410000-00010"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160405"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420412"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280203"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00009"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00001"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001127)95:3<291::AID-AJMG21>3.0.CO;2-H"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330107"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130418"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/78113"}],"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.30662","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:52:11Z","timestamp":1697640731000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,25]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1002\/ajmg.a.30662"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30662","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,25]]}}}