{"entities":{"Q99457":{"pageid":89850,"ns":120,"title":"Item:Q99457","lastrevid":565904,"modified":"2026-08-16T16:07:32Z","type":"item","id":"Q99457","labels":{"mul":{"language":"mul","value":"ID_1907973642"},"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva, tipo 1"},"en":{"language":"en","value":"Autosomal recessive cutis laxa, type 1"}},"descriptions":{"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva tipo 1 (ARCL-1) se manifesta no nascimento com f\u00e1cies anormal, pregas redundantes ao redor da face e pesco\u00e7o, apar\u00eancia envelhecida, frouxid\u00e3o articular e hipotonia muscular. Em compara\u00e7\u00e3o com a c\u00fatis laxa autoss\u00f4mica dominante, a ARCL-I est\u00e1 mais frequentemente associada a complica\u00e7\u00f5es sist\u00eamicas graves, especialmente enfisema, defeitos diafragm\u00e1ticos, tortuosidade arterial e aneurismas. Muitos pacientes morrem de complica\u00e7\u00f5es pulmonares ou card\u00edacas na primeira inf\u00e2ncia. O desenvolvimento mental e motor geralmente s\u00e3o normais. \u00c9 devida a muta\u00e7\u00f5es nos genes que codificam fibulina-4 ou fibulina-5."},"en":{"language":"en","value":"Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies, redundant folds around the face and neck, an aged appearance, joint laxity and muscular hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated with severe systemic complications, especially emphysema, diaphragmatic defects, arterial tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications in early childhood. Mental and motor development are usually normal. It is due to mutations in the genes encoding fibulin-4 or fibulin-5."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"cdc6bbd82892ff8d5a291f33a5326d0f9c135cf9","datavalue":{"value":"https://id.who.int/icd/entity/1907973642","type":"string"},"datatype":"url"},"type":"statement","id":"Q99457$9FB3CD81-2E58-4C52-B0EC-C8856EA625AC","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"4e44a21efd0b3de3fbf3a7cdd0ec697cfdbc7fc1","datavalue":{"value":"CID11:ID_1907973642","type":"string"},"datatype":"string"},"type":"statement","id":"Q99457$A615FA02-01E5-48E0-9005-56A5FB5FB780","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"f9a5f1b01e3bd3fe63b574cd1dabb9158c8a4b80","datavalue":{"value":"dki-india-ID_1907973642","type":"string"},"datatype":"string"},"type":"statement","id":"Q99457$177C0B49-B0E5-4200-87D9-2A664BA948C3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99457$2C9CE4DF-12C0-4B3E-AF7C-B2BF1D6FDFB1","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":"Q99457$57482572-E957-46BF-AF07-F79E7AED7209","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":"Q99457$487C5BA7-6C54-4488-A577-AED3279C16E3","rank":"normal"}]},"sitelinks":{}}}}