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Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins.

作者信息

van der Knaap M S, Barth P G

机构信息

Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.

出版信息

Am J Med Genet. 1994 Aug 15;52(2):218-22. doi: 10.1002/ajmg.1320520218.

Abstract

Connatal thalamic calcifications in apparently uneventful pregnancies have been described in various case reports and in a single report in two sibs. On the other hand, this lesion is known to occur after a hypoxic-ischemic accident in the immature brain. In the present report infantile encephalopathy with symmetrical thalamic calcifications is observed in one sib of a monozygous twin pair. This observation adds to the evidence that the condition is acquired, most probably on the basis of hypoxia-ischemia, and provides strong evidence against autosomal-recessive inheritance.

摘要

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