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Reye's syndrome is characterized by severe encephalopathy and fatty infiltration of the liver. Probably this is a polyetiological syndrome. In most cases the disease is preceded by influenza B or varicella infection. As known to date, damage to mitochondria is the essential feature. Therapy is symptomatic. A review is given of the clinical symptoms and of the many unsolved problems of pathogenesis.  相似文献   

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This peper describes the rare cryptophthalmus syndrome combined with several other malformations of the urogenital tract and of the nose, in addition to dyscephalia and cutaneous syndactilism of fingers and toes. Because of a high incidence of parental consanguinity autosomal recessive heredity is discussed.  相似文献   

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Besides classical achondroplasia various severe osteochondrodysplastic disorders have been differentiated in recent years. Their most important features include obligatory perinatal mortality, severe dystrophy of the thorax and shortening of tubular bones. Additionally some of these syndromes present visceral malformations, cleft-lip, and malformations of the genitals. A detailed case report of a patient is given. Various features: dystrophy of the thorax, micromelia, postaxial polydactyly, metaphyseal dysplasia, malformations of the great vessels, and polcystic kidney suggest the classification as short rib-polydactyly syndrome, type Saldino-Noonan.  相似文献   

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A new case of a combined malformation of the ear (anotia), eye (anophthalmia) and vertebral colum is presented. The distinction from the Goldenhar Syndrome and possible embryologic causes are discussed.  相似文献   

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Case report of a male infant who died from asphyxia on the second day of life and who exhibited typical features of the campomelic syndrome: odd facies, bowing of the long bones of the legs, skeletal deformities, cleft palate. There was also coarctatio of the aorta and probably aplasia of the fibula.  相似文献   

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A case--report is given of a patient with Cogan's syndrome in childhood. This syndrome consists of non-syphilitic interstitial keratitis and vestibuloauditory symptoms. Visual loss is rare but hearing loss is rapidly progressive. A relation to autoimmune diseases especially to panarteriitis nodosa has been suggested by a number of authors.  相似文献   

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