共查询到20条相似文献,搜索用时 0 毫秒
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The EEC syndrome 总被引:1,自引:0,他引:1
C Pries D Mittelman M Miller L M Solomon H M Pashayan S Pruzansky 《American journal of diseases of children (1960)》1974,127(6):840-844
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Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenine administration is the production of the slightly soluble and highly nephrotoxic 2,8-dioxyadenine, which can cause renal damage. 相似文献
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R. A. Pfeiffer 《European journal of pediatrics》1982,138(4):317-320
Two male sibs exhibit peculiar dysplasia of the ears, partial aplasia of the nails, and aplasia or hypoplasia of the fibulae. Gross motor development is severely impaired due to contractures of the hip, knee and ankle joints. Minor craniofacial abnormalities and immobility of several interphalangeal joints are also noted in this new syndrome which may be due to a rare recessive allele, probably autosomal.This paper is dedicated to Prof. K. D. Bachmann, Münster, on the occasion of his 60th birthday 相似文献
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G. Roberto Burgio 《European journal of pediatrics》1995,154(4):261-262
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The cerebro-hepato-renal syndrome (Zellweger's syndrome) 总被引:1,自引:0,他引:1
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The Aarskog syndrome 总被引:2,自引:0,他引:2
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H. -R. Wiedemann G. R. Burgio P. Aldenhoff J. Kunze H. J. Kaufmann E. Schirg 《European journal of pediatrics》1983,140(1):5-12
Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a ‘new’ syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this ‘new’ syndrome. 相似文献