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[Concordance of Kearns-Sayre syndrome and Klinefelter syndrome].

作者信息

Everding A S, Kurlemann G, Gerding H, Bömbelburg T, Palm D G, Gullotta F, Zierz S

机构信息

Neuropädiatrische Abteilung der Universitäts-Kinderklinik, Münster.

出版信息

Monatsschr Kinderheilkd. 1988 Oct;136(10):698-700.

PMID:3237225
Abstract

In the last years the Kearns-Sayre-Syndrome has been defined with the typical trias of chronic external ophthalmoplegia, pigmentary retinal dystrophy and cardiac conduction defects. Today it is no longer believed to present an entity but a variant of the multiple plussymptoms of the ophthalmoplegia-plus group. In pediatrics the existence of this clinical disorder is not yet well acknowledged. The case of a 16-year-old patient is used as an example for the impressive clinical symptoms and the involvement of several organs in this clinical disorder. The combination with a Klinefelter-Syndrome has not previously been reported.

摘要

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