{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:34:53Z","timestamp":1697614493537},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T00:00:00Z","timestamp":1259020800000},"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":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetuses exposed to aminopterin during the 8th\u20139th week of development may show aminopterin embryophathy (AE). Surviving children have a specific phenotype that includes unusual face, skull, and skeletal abnormalities. Fraser et al. [Fraser et al. (1987); Clin Genet 32:28\u201334] described two children with multiple malformations characteristic of the aminopterin syndrome but without history of exposure to aminopterin in the mothers and suggested that this represents a new syndrome, the aminopterin syndrome\u2010like sine aminopterin (ASSA) syndrome. Here we describe a 9\u2010year\u2010old girl, born to unaffected first cousin parents. She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular hypertelorism, epicanthal folds, palpebral ptosis; oligodontia; low\u2010set and small ears with hypoplasia of antihelices; brachydactyly, clinodactyly of both 4th and 5th fingers; hypoplasia of the 4th metacarpal and clinodactyly of the 4th and 5th toes; overlap of the second over the third toe; bilateral hip luxation; patent foramen ovale; left posterior diaphragmatic hernia, absence of spleen and horseshoe kidney. She, her mother and her brother have a karyotype of 46,XX, with an inv(9)(p12q13) polymorphism. Although this patient has some characteristics did not described before in patients with ASSA such as, palpebral ptosis, oligodontia, left posterior diaphragmatic hernia, absence of spleen, and horseshoe kidney, her phenotype strongly suggest she has the pseudoaminopterin syndrome. However, we do not exclude the possibility that this is a different condition not described previously. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33125","type":"journal-article","created":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T19:12:54Z","timestamp":1259089974000},"page":"2843-2848","source":"Crossref","is-referenced-by-count":3,"title":["Pseudoaminopterin syndrome: Clinical report with new characteristics"],"prefix":"10.1002","volume":"149A","author":[{"given":"N.","family":"Sobreira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cernach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Batista","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Brunoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Perez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,11,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370411"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03319.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<320::AID-AJMG5>3.0.CO;2-Z"},{"key":"e_1_2_4_5_1","first-page":"39","article-title":"An unusual form of acrocephalosyndactyly","author":"Herrmann J","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_6_1","first-page":"345","article-title":"Aminopterin syndrome sine aminopterin (ASSA) syndrome in two siblings: Further delineation of the syndrome and review of the literature","volume":"5","author":"Krajewska\u2010Walasek M","year":"1994","journal-title":"Genet Couns"},{"key":"e_1_2_4_7_1","first-page":"139","article-title":"Recognition in adult patients of malformations induced by folic\u2010acid antagonists","volume":"14","author":"Reich EW","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30044"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460410"}],"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.33125","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T05:38:24Z","timestamp":1697434704000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,24]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1002\/ajmg.a.33125"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33125","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,24]]}}}