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[DeBarsy-Moens-Dierckx-syndrome (author's transl)].

作者信息

Riebel T

出版信息

Monatsschr Kinderheilkd (1902). 1976 Feb;124(2):96-8.

PMID:1256459
Abstract

The symptoms of DeBarsy-Moens-Dierckx-syndrome previously described only in single patients, have been observed in a brother and a sister. Both children showed dwarfism, dystrophy, oligophrenia, an old looking face, and a typically lax skin and cloudy cornea as signs of degeneration of the elastic tissue. Moderate pathological changes were also found in the electroencephalogram, the echoencephalogram, and the X-ray films of the wrists. The analysis of the chromosomes and many other laboratory data were normal. The family-history gave no clue as far as the heredity mode is concerned. As far as we know this is the first description of this syndrome in siblings.

摘要

相似文献

1
[DeBarsy-Moens-Dierckx-syndrome (author's transl)].
Monatsschr Kinderheilkd (1902). 1976 Feb;124(2):96-8.
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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.PYCR1 中的复合杂合突变进一步扩展了 De Barsy 综合征的表型谱。
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引用本文的文献

1
De Barsy syndrome--an autosomal recessive, progeroid syndrome.德巴尔西综合征——一种常染色体隐性早衰综合征。
Eur J Pediatr. 1985 Nov;144(4):348-54. doi: 10.1007/BF00441776.
2
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).
Eur J Pediatr. 1986 Oct;145(5):428-34. doi: 10.1007/BF00439254.