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

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.