[DeBarsy-Moens-Dierckx-syndrome (author's transl)].
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.
D002648:Child; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics*; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics*; D004453:Echoencephalography; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome
DeBarsy-Moens-Dierckx-Syndrom: Beobachtung bei Geschwistern