Literature DB >> 1256459

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

T Riebel.   

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.

Entities:  

Mesh:

Year:  1976        PMID: 1256459

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd


  2 in total

1.  De Barsy syndrome--an autosomal recessive, progeroid syndrome.

Authors:  J Kunze; F Majewski; P Montgomery; A Hockey; I Karkut; T Riebel
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

2.  Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).

Authors:  B F Pontz; F Zepp; H Stöss
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

  2 in total

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