{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:37:29Z","timestamp":1791999449236,"version":"4.4.0"},"reference-count":9,"publisher":"FapUNIFESP (SciELO)","issue":"2a","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:p>Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.<\/jats:p>","DOI":"10.1590\/s0004-282x2006000200024","type":"journal-article","created":{"date-parts":[[2006,8,2]],"date-time":"2006-08-02T17:56:37Z","timestamp":1154541397000},"page":"303-305","source":"Crossref","is-referenced-by-count":3,"title":["Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis"],"prefix":"10.1590","volume":"64","author":[{"given":"Daniel R.","family":"Carvalho","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clovis S.","family":"Trad","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o M.","family":"Pina-Neto","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1590\/S0004-282X1997000200006","article-title":"Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes","volume":"55","author":"Pina-Neto JM","year":"1997","journal-title":"Arq Neuropsiquiatr","ISSN":"https:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1001\/archinte.158.12.1309","article-title":"Klinefelter syndrome","volume":"158","author":"Smyth CM","year":"1998","journal-title":"Arch Intern Med","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9926","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<111::AID-AJMG22>3.0.CO;2-T","article-title":"Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15: a coincidence?","volume":"72","author":"Butler MG","year":"1997","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<286::AID-AJMG21>3.0.CO;2-J","article-title":"Further example of a patient with Prader-Willi and Klinefelter syndromes of different parental origins","volume":"80","author":"Geffroy S","year":"1998","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/ajmg.a.20458","article-title":"Boy with 47, XXY,del(15)(q11. 2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature","volume":"125A","author":"Nowaczyk MJ","year":"2004","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref6","first-page":"335","article-title":"Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene","volume":"58","author":"Glenn CC","year":"1996","journal-title":"Am J Hum Genet."},{"key":"ref7","series-title":"Craniosynostosis: diagnosis, evaluation and management","author":"Cohen MM Jr.","year":"2000","edition":"2nd"},{"key":"ref8","first-page":"303","article-title":"Update on craniofacial surgery: the differential diagnosis of lambdoid synostosis\/posterior plagiocephaly","volume":"47","author":"Ellenbogen RG","year":"2000","journal-title":"Clin Neurosurg","ISSN":"https:\/\/id.crossref.org\/issn\/0069-4827","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/S0022-3476(72)80586-9","article-title":"The XXY (Klinefelter\u2019s) syndrome in childhood: detection and treatment","volume":"80","author":"Caldweel PD","year":"1972","journal-title":"J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v64n2a\/a24v642a.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T12:55:52Z","timestamp":1495716952000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":9,"journal-issue":{"issue":"2a","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["S0004-282X2006000200024"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2006000200024","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}