{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:58:50Z","timestamp":1753887530781,"version":"3.41.2"},"reference-count":21,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,9,1]]},"abstract":"<jats:p>A 3-day-old girl was referred from her pediatrician for oral ulcerations. The patient was otherwise well appearing and afebrile. Her prenatal and antenatal courses were unremarkable, except for a failed routine hearing screen. The patient\u2019s examination was notable for several yellowish ulcers on erythematous bases located on her anterior tonsillar pillars. The patient also had a right coloboma and a II\/VI systolic ejection murmur. Laboratory analyses revealed a traumatic lumbar puncture with 182\u2009000 red blood cells and 808 white blood cells, as well as a complete blood count that showed thrombocytopenia and leukocytosis. During the patient\u2019s hospitalization, she developed a new facial rash. Her physical examination findings, along with her diagnostic evaluation and hospital course, ultimately led to 2 surprising diagnoses elaborated on in this case discussion.<\/jats:p>","DOI":"10.1542\/peds.2015-2043","type":"journal-article","created":{"date-parts":[[2016,8,9]],"date-time":"2016-08-09T09:07:21Z","timestamp":1470733641000},"source":"Crossref","is-referenced-by-count":2,"title":["A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations"],"prefix":"10.1542","volume":"138","author":[{"given":"Mary Lauren","family":"Neel","sequence":"first","affiliation":[{"name":"Children\u2019s National Medical Center, Washington, District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Kern","sequence":"additional","affiliation":[{"name":"Children\u2019s National Medical Center, Washington, District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tova","family":"Ronis","sequence":"additional","affiliation":[{"name":"Children\u2019s National Medical Center, Washington, District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2016,9,1]]},"reference":[{"key":"2021120907162260400_B1","article-title":"CHARGE syndrome","volume-title":"GeneReviews","author":"Lalani","year":"2006"},{"key":"2021120907162260400_B2","first-page":"432","article-title":"Herpes Simplex","volume-title":"Red Book: 2015 Report of the Committee on Infectious Diseases","author":"American Academy of Pediatrics","year":"2015","edition":"30th ed"},{"journal-title":"Pediatr Infect Dis J","author":"Greenberg","key":"2021120907162260400_B3"},{"journal-title":"Semin Perinatol","author":"Srinivasan","key":"2021120907162260400_B4"},{"issue":"6","key":"2021120907162260400_B5","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/j.ajo.2013.06.037","article-title":"Systemic diagnostic testing in patients with apparently isolated uveal coloboma.","volume":"156","author":"Huynh","year":"2013","journal-title":"Am J Ophthalmol"},{"issue":"5","key":"2021120907162260400_B6","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1097\/01.icu.0000243020.82380.f6","article-title":"Uveal coloboma: clinical and basic science update.","volume":"17","author":"Chang","year":"2006","journal-title":"Curr Opin Ophthalmol"},{"year":"2011","author":"Paller","key":"2021120907162260400_B7"},{"issue":"6","key":"2021120907162260400_B8","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/ard.2008.088054","article-title":"Disease progression in mothers of children enrolled in the Research Registry for Neonatal Lupus.","volume":"68","author":"Rivera","year":"2009","journal-title":"Ann Rheum Dis"},{"issue":"7","key":"2021120907162260400_B9","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1016\/S0735-1097(98)00161-2","article-title":"Autoimmune-associated congenital heart block: demographics, mortality, morbidity and recurrence rates obtained from a national neonatal lupus registry.","volume":"31","author":"Buyon","year":"1998","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"2021120907162260400_B10","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/j.1365-3083.2010.02437.x","article-title":"Spectrum of cardiac involvement in neonatal lupus.","volume":"72","author":"Hornberger","year":"2010","journal-title":"Scand J Immunol"},{"issue":"2","key":"2021120907162260400_B11","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/ar1690","article-title":"Anti-SSA\/Ro antibodies and the heart: more than complete congenital heart block? A review of electrocardiographic and myocardial abnormalities and of treatment options.","volume":"7","author":"Costedoat-Chalumeau","year":"2005","journal-title":"Arthritis Res Ther"},{"issue":"5","key":"2021120907162260400_B12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.amjcard.2010.10.059","article-title":"Spontaneous rupture of atrioventricular valve tensor apparatus as late manifestation of anti-Ro\/SSA antibody-mediated cardiac disease.","volume":"107","author":"Cuneo","year":"2011","journal-title":"Am J Cardiol"},{"issue":"3","key":"2021120907162260400_B13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1080\/14767050802488220","article-title":"An expanded phenotype of maternal SSA\/SSB antibody-associated fetal cardiac disease.","volume":"22","author":"Cuneo","year":"2009","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2021120907162260400_B14","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/B978-1-4160-6581-4.10023-8","article-title":"Neonatal lupus erythematosus","volume-title":"Textbook of Pediatric Rheumatology","author":"Buyon","year":"2011","edition":"6th ed"},{"issue":"6","key":"2021120907162260400_B15","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1067\/mpd.2003.233","article-title":"Incidence and spectrum of neonatal lupus erythematosus: a prospective study of infants born to mothers with anti-Ro autoantibodies.","volume":"142","author":"Cimaz","year":"2003","journal-title":"J Pediatr"},{"issue":"6","key":"2021120907162260400_B16","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.autrev.2008.12.013","article-title":"Neonatal lupus erythematosus in Japan: a review of the literature.","volume":"8","author":"Kobayashi","year":"2009","journal-title":"Autoimmun Rev"},{"issue":"3","key":"2021120907162260400_B17","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.a.31017","article-title":"Systemic lupus erythematosus and other autoimmune disorders in children with Noonan Syndrome","volume":"139","author":"Lopez-Rangel","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2021120907162260400_B18","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1097\/01.mcd.0000127467.04018.6d","article-title":"Noonan syndrome and systemic lupus erythematosus: presentation in childhood","volume":"13","author":"Alanay","year":"2004","journal-title":"Clin Dysmorphol"},{"issue":"1","key":"2021120907162260400_B19","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/S1054-139X(02)00364-6","article-title":"The unusual association of three autoimmune diseases in a patient with Noonan syndrome.","volume":"32","author":"Amoroso","year":"2003","journal-title":"J Adolesc Health"},{"issue":"3","key":"2021120907162260400_B20","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1177\/0961203308094996","article-title":"Noonan syndrome associated with systemic lupus erythematosus.","volume":"18","author":"Lisbona","year":"2009","journal-title":"Lupus"},{"issue":"1","key":"2021120907162260400_B21","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/1096-8628(20010722)102:1<59::AID-AJMG1351>3.0.CO;2-O","article-title":"Systemic lupus erythematosus in a man with Noonan syndrome.","volume":"102","author":"Martin","year":"2001","journal-title":"Am J Med Genet"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2015-2043\/1097944\/peds_20152043.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2015-2043\/1097944\/peds_20152043.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T01:48:52Z","timestamp":1639100932000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/138\/3\/e20152043\/52739\/A-3-Day-Old-Girl-Referred-From-Her-Pediatrician"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,1]]},"references-count":21,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2016,9,1]]},"published-print":{"date-parts":[[2016,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2015-2043","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2016,9,1]]},"article-number":"e20152043"}}