{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:55:19Z","timestamp":1762865719360},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T00:00:00Z","timestamp":1287014400000},"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":[[2010,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Elsahy\u2013Waters or branchioskeletogenital syndrome is a rare MCA\/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism\/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and radicular dentin dysplasia. Here we report on a 44\u2010year\u2010old woman and her 45\u2010year\u2010old brother, born to consanguineous parents, who show a striking resemblance to the earlier described patients. The hitherto reported patients were male and in one pedigree parents were consanguineous. The present report of an affected woman and her brother, born to consanguineous parents, supports autosomal recessive inheritance of this condition. We provide a short review of all previously reported patients with Elsahy\u2013Waters syndrome and related entities. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33634","type":"journal-article","created":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T16:21:34Z","timestamp":1287073294000},"page":"2810-2815","source":"Crossref","is-referenced-by-count":14,"title":["Elsahy\u2013Waters syndrome: Evidence for autosomal recessive inheritance"],"prefix":"10.1002","volume":"152A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piero","family":"Cascone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Valiante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Laino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Iannetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,10,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.350"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03761.x"},{"key":"e_1_2_4_4_1","volume-title":"Craniosynostosis: Diagnosis, evaluation and management","author":"Cohen MM","year":"2010"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197112000-00004"},{"key":"e_1_2_4_6_1","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RCM","year":"2010"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0901-5027(96)80048-8"},{"key":"e_1_2_4_8_1","first-page":"240","article-title":"The hypertelorism\u2010hypospadias syndrome","volume":"26","author":"Reed MH","year":"1975","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_4_9_1","first-page":"193","article-title":"The branchioskeletogenital syndrome","volume":"18","author":"Shafai J","year":"1982","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280306"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.009"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-117X(83)90053-7"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.017"},{"key":"e_1_2_4_14_1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0011-8532(22)00655-3","article-title":"Hereditary defects of dentin","volume":"19","author":"Witkop CJ","year":"1975","journal-title":"Dent Clin North Am"}],"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.33634","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33634","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:15:49Z","timestamp":1697588149000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,14]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["10.1002\/ajmg.a.33634"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33634","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,14]]}}}