{"entities":{"Q93976":{"pageid":84369,"ns":120,"title":"Item:Q93976","lastrevid":526270,"modified":"2026-08-16T09:05:24Z","type":"item","id":"Q93976","labels":{"mul":{"language":"mul","value":"ID_2027710139"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Antley-Bixler"},"en":{"language":"en","value":"Antley-Bixler syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"S\u00edndrome de Antley-Bixler \u00e9 um transtorno muito raro caracterizado por craniossinostose com hipoplasia da face m\u00e9dia, sinostose radioumeral, arqueamento femoral e contraturas articulares. Duas formas geneticamente distintas s\u00e3o observadas: a s\u00edndrome de Antley-Bixler tipo 1 est\u00e1 associada a muta\u00e7\u00f5es heterozigotas no gene FGFR2 (10q26) sem comprometimento da esteroidog\u00eanese, enquanto o Antley-Bixler tipo 2 est\u00e1 associado a muta\u00e7\u00f5es homozig\u00f3ticas no gene POR (7q11.2), que codifica o citocromo P450 oxidorredutase (POR), que desempenha um papel direto na esteroidog\u00eanese. O Antley-Bixler do tipo 2 pode, portanto, ser acompanhado de ambiguidade genital."},"en":{"language":"en","value":"Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis, whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene (7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"000cf345b4150665c2951f825226adbcef4efc8c","datavalue":{"value":"https://id.who.int/icd/entity/2027710139","type":"string"},"datatype":"url"},"type":"statement","id":"Q93976$E7C4D1C0-33ED-46BE-A19D-98A70ABE1281","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"4bd403418b8088c83d33426218f24c6c8d97ea34","datavalue":{"value":"CID11:ID_2027710139","type":"string"},"datatype":"string"},"type":"statement","id":"Q93976$86224BDB-508A-43C5-B76D-7557CC0E932E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"76e6cf67e159699a333119739fc81797b475dbda","datavalue":{"value":"dki-india-ID_2027710139","type":"string"},"datatype":"string"},"type":"statement","id":"Q93976$933DBF74-DEC1-46FC-AEC6-A909D8113B13","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q93976$1D5DDBFC-60DF-4136-810E-D1B686ACE19E","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q93976$C3C04892-D48B-4E5A-AD41-C4AE9A38C2B2","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q93976$0C32477E-C129-43FF-A9A2-A6A89F88217E","rank":"normal"}]},"sitelinks":{}}}}