{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:42:35Z","timestamp":1761921755856,"version":"build-2065373602"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,2,13]],"date-time":"2002-02-13T00:00:00Z","timestamp":1013558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mixed clefting type (MCT) is the rare occurrence of cleft lip, with or without cleft palate, and cleft palate alone in the same pedigree. Here we present a family with Rapp\u2010Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well. RHS has obvious phenotypic overlap with other ectodermal dysplasia\u2010clefting syndromes (EDCS), such as ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome (EEC) and ankyloblepharon\u2010ectodermal dysplasia\u2010clefting syndrome (AEC), all of which show MCT. MCT is also found in the allelic disorders van der Woude syndrome (VDW) and popliteal\u2010pterygium syndrome (PPS). Therefore, while VDW and PPS have little clinical overlap with the EDCS, the common finding of MCT may indicate closer relationships at the developmental or genetic level. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10165","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"281-284","source":"Crossref","is-referenced-by-count":14,"title":["Mixed clefting type in Rapp\u2010Hodgkin syndrome"],"prefix":"10.1002","volume":"108","author":[{"given":"Derek E.","family":"Neilson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne W.","family":"Brunger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shauna","family":"Heeger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,2,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<183::AID-AJMG22>3.0.CO;2-#"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302498"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb06891.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_6_6_1","first-page":"358","article-title":"Thoughts on the etiology of clefts of the palate and lip","volume":"5","author":"Fraser FC","year":"1955","journal-title":"Acta Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360213"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050203"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00372.x"},{"key":"e_1_2_6_11_1","first-page":"888","article-title":"Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32","volume":"36","author":"Lees MM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J"},{"key":"e_1_2_6_14_1","unstructured":"Online Mendelian Inheritance in Man OMIM(\u2122).2000. 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