{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:44:28Z","timestamp":1790185468656,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6614,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an 18\u2010month\u2010old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320270112","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:48:11Z","timestamp":1118544491000},"page":"119-125","source":"Crossref","is-referenced-by-count":37,"title":["Severe proteus syndrome in an 18\u2010month\u2010old boy"],"prefix":"10.1002","volume":"27","author":[{"given":"Ariadne","family":"Malamitsi\u2010Puchner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Kitsiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos S.","family":"Bartsocas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442754"},{"key":"e_1_2_1_3_1","series-title":"BD:OAS","first-page":"291","volume-title":"Penetrance and Variability in Malformation Syndromes","author":"Cohen MM","year":"1979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1542\/peds.76.6.984","article-title":"Proteus syndrome: Report of two cases with pelvic lipomatosis","volume":"76","author":"Costa T","year":"1985","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","first-page":"739","article-title":"A possible case of Maflucci's syndrome","volume":"26","author":"Fay JT","year":"1968","journal-title":"J Oral Surg"},{"key":"e_1_2_1_6_1","first-page":"8","article-title":"Proteus syndromes","volume":"2","author":"Gorlin RJ","year":"1984","journal-title":"J din Dysmorphol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02248685"},{"key":"e_1_2_1_8_1","unstructured":"GransesY[1973];A propos d'un cas in\u00e9dit dc syndrome poly ma I format if avec gigantisme partiel des extremites. Etude comparative avec gigannsmc partiel des extr\u00e9mit\u00e9s. Etude comparative do 100 cas de syndrome de Maffucci Th\u00e8se. Universit\u00e9de Lausanne."},{"key":"e_1_2_1_9_1","series-title":"National Foundation\u2014March of Dimes.","first-page":"315","volume-title":"The 3rd Conference on The Clinical Delineation of Birth Defects, Part XII, \u201cSkin, Hair, and Nails.\u201d","author":"Horton WA","year":"1971"},{"key":"e_1_2_1_10_1","first-page":"1","article-title":"Case report 19","volume":"2","author":"Kontras SB","year":"1974","journal-title":"Synd Ident"},{"key":"e_1_2_1_11_1","first-page":"10","article-title":"The Proteus syndrome. The emergence of an entity","volume":"2","author":"Lezama DB","year":"1984","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_1_12_1","first-page":"4","article-title":"Hypertrophied lumbar and muscular atrophy","volume":"4","author":"Pawlaczyc B","year":"1976","journal-title":"Synd Ident"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80597-5"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270110"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250229"},{"key":"e_1_2_1_16_1","first-page":"5","article-title":"The Proteus syndrome: Partial gigantism of the hands and\/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affectations","volume":"140","author":"Wiedemann H\u2010R","year":"1983","journal-title":"Fur J Pcdiair"},{"key":"e_1_2_1_17_1","first-page":"724","article-title":"Asymetrick\u00e1 osteokut\u00e1nni liponut\u00f3za u t\u0159ailet\u00e9ho chlapce pro\u00e1zen\u00e1 chybn\u00fdam vyacute;vojem mozku","volume":"38","author":"Zuntov\u00e1 A","year":"1983","journal-title":"\u010cs Pediatr"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:17:44Z","timestamp":1697894264000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,5]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,5]]}},"alternative-id":["10.1002\/ajmg.1320270112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270112","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,5]]}}}