PubMed:1248162 JSONTXT

{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0000410","span":{"begin":231,"end":249},"obj":"HP:0000410"},{"id":"HP:0000376","span":{"begin":257,"end":291},"obj":"HP:0000376"},{"id":"HP:0008554","span":{"begin":270,"end":291},"obj":"HP:0008554"},{"id":"HP:0000381","span":{"begin":296,"end":311},"obj":"HP:0000381"},{"id":"HP:0000378","span":{"begin":317,"end":346},"obj":"HP:0000378"},{"id":"HP:0004467","span":{"begin":362,"end":377},"obj":"HP:0004467"},{"id":"HP:0009795","span":{"begin":393,"end":417},"obj":"HP:0009795"},{"id":"HP:0000110","span":{"begin":437,"end":452},"obj":"HP:0000110"},{"id":"HP:0004742","span":{"begin":457,"end":491},"obj":"HP:0004742"},{"id":"HP:0007993","span":{"begin":534,"end":563},"obj":"HP:0007993"},{"id":"HP:0009795","span":{"begin":629,"end":653},"obj":"HP:0009795"},{"id":"HP:0000113","span":{"begin":658,"end":686},"obj":"HP:0000113"},{"id":"HP:0009794","span":{"begin":949,"end":973},"obj":"HP:0009794"},{"id":"T1","span":{"begin":231,"end":249},"obj":"HP:0000410"},{"id":"T2","span":{"begin":257,"end":291},"obj":"HP:0000376"},{"id":"T3","span":{"begin":270,"end":291},"obj":"HP:0008554"},{"id":"T4","span":{"begin":296,"end":311},"obj":"HP:0000381"},{"id":"T5","span":{"begin":317,"end":346},"obj":"HP:0000378"},{"id":"T6","span":{"begin":362,"end":377},"obj":"HP:0004467"},{"id":"T7","span":{"begin":393,"end":417},"obj":"HP:0009795"},{"id":"T8","span":{"begin":437,"end":452},"obj":"HP:0000110"},{"id":"T9","span":{"begin":457,"end":491},"obj":"HP:0004742"},{"id":"T10","span":{"begin":534,"end":563},"obj":"HP:0007993"},{"id":"T11","span":{"begin":629,"end":653},"obj":"HP:0009795"},{"id":"T12","span":{"begin":658,"end":686},"obj":"HP:0000113"},{"id":"T13","span":{"begin":949,"end":973},"obj":"HP:0009794"},{"id":"T1","span":{"begin":231,"end":249},"obj":"HP:0000410"},{"id":"T2","span":{"begin":257,"end":291},"obj":"HP:0000376"},{"id":"T3","span":{"begin":270,"end":291},"obj":"HP:0008554"},{"id":"T4","span":{"begin":296,"end":311},"obj":"HP:0000381"},{"id":"T5","span":{"begin":317,"end":346},"obj":"HP:0000378"},{"id":"T6","span":{"begin":362,"end":377},"obj":"HP:0004467"},{"id":"T7","span":{"begin":393,"end":417},"obj":"HP:0009795"},{"id":"T8","span":{"begin":437,"end":452},"obj":"HP:0000110"},{"id":"T9","span":{"begin":457,"end":491},"obj":"HP:0004742"},{"id":"T10","span":{"begin":534,"end":563},"obj":"HP:0007993"},{"id":"T11","span":{"begin":629,"end":653},"obj":"HP:0009795"},{"id":"T12","span":{"begin":658,"end":686},"obj":"HP:0000113"},{"id":"T13","span":{"begin":949,"end":973},"obj":"HP:0009794"},{"id":"T1","span":{"begin":231,"end":249},"obj":"HP:0000410"},{"id":"T2","span":{"begin":257,"end":291},"obj":"HP:0000376"},{"id":"T3","span":{"begin":270,"end":291},"obj":"HP:0008554"},{"id":"T4","span":{"begin":296,"end":311},"obj":"HP:0000381"},{"id":"T5","span":{"begin":317,"end":346},"obj":"HP:0000378"},{"id":"T6","span":{"begin":362,"end":377},"obj":"HP:0004467"},{"id":"T7","span":{"begin":393,"end":417},"obj":"HP:0009795"},{"id":"T8","span":{"begin":437,"end":452},"obj":"HP:0000110"},{"id":"T9","span":{"begin":457,"end":491},"obj":"HP:0004742"},{"id":"T10","span":{"begin":534,"end":563},"obj":"HP:0007993"},{"id":"T11","span":{"begin":629,"end":653},"obj":"HP:0009795"},{"id":"T12","span":{"begin":658,"end":686},"obj":"HP:0000113"},{"id":"T13","span":{"begin":949,"end":973},"obj":"HP:0009794"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"text":"Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.\nThe present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits: (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way."}