{"entities":{"Q99228":{"pageid":89621,"ns":120,"title":"Item:Q99228","lastrevid":564247,"modified":"2026-08-16T15:53:48Z","type":"item","id":"Q99228","labels":{"mul":{"language":"mul","value":"ID_720025180"},"pt-br":{"language":"pt-br","value":"Microcefalia - hipogamaglobulinemia - imunidade anormal"},"en":{"language":"en","value":"Microcephaly - hypogammaglobulinaemia - abnormal immunity"}},"descriptions":{"pt-br":{"language":"pt-br","value":"S\u00edndrome de Say-Barber-Miller \u00e9 caracterizada pela associa\u00e7\u00e3o de caracter\u00edsticas faciais incomuns, microcefalia, atraso no desenvolvimento e grave retardo de crescimento p\u00f3s-natal. Foi relatado em dois irm\u00e3os nascidos de pais normais. Caracter\u00edsticas adicionais incluem hipogonadismo, contraturas em flex\u00e3o, patela hipopl\u00e1sica, escoliose, eczema e infec\u00e7\u00f5es recorrentes. A f\u00e1cies caracter\u00edstica era marcada por testa inclinada, nariz adunco, orelhas grandes e salientes e micrognatia. N\u00edveis baixos de gamaglobulinas s\u00e9ricas e quimiotaxia defeituosa foram detectados em ambos os meninos durante a inf\u00e2ncia. A hipogamaglobulinemia melhorou com a idade, mas a quimiotaxia defeituosa e as infec\u00e7\u00f5es recorrentes persistiram."},"en":{"language":"en","value":"Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"24de3a5471580464d5fd35e87ba6850132169a70","datavalue":{"value":"https://id.who.int/icd/entity/720025180","type":"string"},"datatype":"url"},"type":"statement","id":"Q99228$61A62961-86E1-40B4-A515-6B76BA6FAFA4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b0787e115c0d8a9c428b33f9f6570b6c5702d5d9","datavalue":{"value":"CID11:ID_720025180","type":"string"},"datatype":"string"},"type":"statement","id":"Q99228$B0D1965B-E22C-4F80-A796-50281E4CA63D","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"b42bec86e246eb62aaadcbc3401e6b463ac08b89","datavalue":{"value":"dki-india-ID_720025180","type":"string"},"datatype":"string"},"type":"statement","id":"Q99228$3BC65876-03CB-4936-BA07-FEA5FC213819","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99228$88954D4D-2C06-4B6C-ABA2-DDF0686E1FEC","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":"Q99228$86D41415-7639-441D-B4C5-B505601E4040","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":"Q99228$613C003A-DAD5-4580-9B70-A448A9437AA0","rank":"normal"}]},"sitelinks":{}}}}