{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:09:11Z","timestamp":1784005751466,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T00:00:00Z","timestamp":1468368000000},"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":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>McCune\u2013Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of <jats:italic>GNAS1<\/jats:italic> encoding the G<jats:sub>s<\/jats:sub>\u03b1 subunit of the G\u2010protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH\u2010independent neonatal Cushing syndrome. Her course included multi\u2010system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of caf\u00e9\u2010au\u2010lait macules, fibrous dysplasia, or peripheral precocious puberty. After medical and surgical treatment, she remains the only reported survivor of neonatal MAS. This clinical report alerts clinicians to the possibility of this disease in neonates with non\u2010classical endocrine and non\u2010endocrine manifestations of MAS, and demonstrates that this very early presentation is potentially survivable. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37841","type":"journal-article","created":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T16:33:24Z","timestamp":1468427604000},"page":"3008-3012","source":"Crossref","is-referenced-by-count":6,"title":["Neonatal McCune\u2013Albright syndrome with survival beyond two years"],"prefix":"10.1002","volume":"170","author":[{"given":"Melinda","family":"Pierce","sequence":"first","affiliation":[{"name":"Division of Endocrinology Department of Pediatrics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Scottoline","sequence":"additional","affiliation":[{"name":"Division of Neonatal\u2010Perinatal Medicine Department of Pediatrics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/lm.354106"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2321"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.10.3441"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.2.330"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-1238"},{"key":"e_1_2_5_7_1","first-page":"509","article-title":"Left ventricular structural characteristics in Cushing's syndrome","volume":"8","author":"Fallo F","year":"1994","journal-title":"J Hum Hypertens"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-7-47"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01261.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/lm.723708"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70302-1"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-015-0689-2"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031225"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000245934"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80943-6"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(00)80202-0"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.12.003"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410020503"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2004-0865"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112123252403"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb11769.x"}],"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.37841","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37841","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37841","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:34Z","timestamp":1696648414000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,13]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37841"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37841","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,13]]}}}