{"entities":{"Q99447":{"pageid":89840,"ns":120,"title":"Item:Q99447","lastrevid":565830,"modified":"2026-08-16T16:06:57Z","type":"item","id":"Q99447","labels":{"mul":{"language":"mul","value":"ID_1052317213"},"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva, tipo 2B"},"en":{"language":"en","value":"Autosomal recessive cutis laxa, type 2B"}},"descriptions":{"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva, tipo 2B (ARCL-2B) \u00e9 caracterizada por pele enrugada inel\u00e1stica, especialmente no dorso das extremidades e no abd\u00f4men, osteoporose, luxa\u00e7\u00e3o do quadril, retardo de crescimento intrauterino e p\u00f3s-natal e retardo no desenvolvimento. As caracter\u00edsticas distintivas incluem f\u00e1cies dism\u00f3rfica triangular com apar\u00eancia progeroide, nariz bulboso, prognatismo, hipotelorismo, pregas epic\u00e2nticas, esclera azulada, orelhas grandes e microcefalia. Algumas dessas caracter\u00edsticas se sobrep\u00f5em \u00e0s do geroderma osteodispl\u00e1sico, ARCL-2A, s\u00edndrome da pele enrugada e ARCL-3 (s\u00edndrome de De Barsy). ARCL-IIB resulta de muta\u00e7\u00f5es no gene PYCR1, que codifica uma enzima mitocondrial envolvida no metabolismo da prolina."},"en":{"language":"en","value":"Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterised by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"dadec5dc5211e2bff9f60accffa0ea9ccb96ef73","datavalue":{"value":"https://id.who.int/icd/entity/1052317213","type":"string"},"datatype":"url"},"type":"statement","id":"Q99447$2A7A9B89-D62A-46EC-9B35-9F65A042C8EF","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"57f3d23d75d5b01d2cac50d7011b1a462cdbace5","datavalue":{"value":"CID11:ID_1052317213","type":"string"},"datatype":"string"},"type":"statement","id":"Q99447$E3D4263C-7D9B-4C0A-935D-C049E97657C1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"5a921c2466be4c6c84194407542a8590257faef9","datavalue":{"value":"dki-india-ID_1052317213","type":"string"},"datatype":"string"},"type":"statement","id":"Q99447$35994C27-9CAA-4D9F-982E-96B93F91B5A3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99447$CA32C28B-2E24-4EFD-AD28-0E054C7BF66E","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":"Q99447$33C92FB3-75AF-4544-8270-EAAF2C8A7FA9","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q99447$C0E7328C-49B7-46F4-8EA0-F4378238539F","rank":"normal"}]},"sitelinks":{}}}}