{"entities":{"Q89144":{"pageid":79529,"ns":120,"title":"Item:Q89144","lastrevid":491740,"modified":"2026-08-15T15:42:17Z","type":"item","id":"Q89144","labels":{"mul":{"language":"mul","value":"ID_804357902"},"pt-br":{"language":"pt-br","value":"Displasia cerebrofaciotor\u00e1cica"},"en":{"language":"en","value":"Cerebrofaciothoracic dysplasia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A displasia cerebro-facio-tor\u00e1cica ou s\u00edndrome de Pascual-Castroviejo tipo 1 \u00e9 uma s\u00edndrome rara caracterizada por dismorfismo facial (braquicefalia, hipertelorismo, ponte nasal larga, filtro grande, boca em formato triangular e micrognatia), d\u00e9ficit intelectual e anormalidades costovertebrais (curto, b\u00edfido ou costelas fundidas, pontes \u00f3sseas que unem os arcos posteriores em algumas costelas, hemi v\u00e9rtebras). O d\u00e9ficit intelectual \u00e9 constante, mas a gravidade varia e os pacientes tamb\u00e9m apresentam anormalidades cerebrais: atrofia cortical, hipoplasia do corpo caloso e vermis cerebelar."},"en":{"language":"en","value":"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterised by facial dysmorphism (brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia), intellectual deficit and costovertebral abnormalities (short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae). Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a96fc70c96cca76e9c70aec44abb49a78e1f5cd8","datavalue":{"value":"https://id.who.int/icd/entity/804357902","type":"string"},"datatype":"url"},"type":"statement","id":"Q89144$072BE16F-273C-441B-A7E4-C59C86714F22","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"539c8adc7fe13f0728c8c25391f80dd4eb0a5b3e","datavalue":{"value":"CID11:ID_804357902","type":"string"},"datatype":"string"},"type":"statement","id":"Q89144$D64CB0B6-7950-49F2-8D33-437BA8C02C78","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"edd7ebddea091fdb8f2be156a1e2f37e4fb63ab0","datavalue":{"value":"dki-india-ID_804357902","type":"string"},"datatype":"string"},"type":"statement","id":"Q89144$055482A2-7E4C-4772-9328-D33B63992663","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q89144$E9B70F86-15FA-4BC7-AD54-10673CF6AB7C","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":"Q89144$8AE19346-6828-4597-8325-B38DA90F646A","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q89144$73EA54F1-59B4-415B-B7B2-12EFC06BDA59","rank":"normal"}]},"sitelinks":{}}}}