Zusammenfassung
Es wird ein Kind mit D-Trisomie-Syndrom beschrieben: Außer den typischen äußeren Fehlbildungen (Mikrocephalie, medianer Lippen-Kiefer-Gaumenspalte mit intaktem Nasenseptum und rudimentärem Zwischenkiefer, tiefsitzenden Ohren, Mikrogenie, Deformität der Hände) fand sich ein Ventrikelseptumdefekt und eine ungewöhnliche Hirnmißbildung der Holoprosencephalie-(Cyclopie-Arrhinencephalie-) Gruppe, die näher dargestellt wird. Auf Grund der Zusammenstellung bisher bekanntgewordener Hirnmißbildungen bei autosomalen Trisomien (D, E, G) wird zur Frage eines Zusammenhangs des Extrachromosoms mit der Hirnentwicklung Stellung genommen: Während sich bei Trisomie D meist als spezifische Fehlbildungen soche der Holoprosencephalie-Gruppe finden, sind die Veränderungen bei der Trisomie E und beim Down-Syndrom (Trisomie 21) uncharakteristisch. Möglicherweise kommt den Chromosomen der Gruppe D (13–15) eine gewisse spezifische Wirkung auf die Gehirnentwicklung zu, wahrscheinlich durch Beeinflussung des prächordalen Mesoderms. Die Fehldifferenzierung des Zentralorgans kann aber auch allein durch die Störung des genetischen Gleichgewichts bedingt sein; diese äußert sich auch in den anderen Abartungen, die den autosomalen Trisomien gemeinsam sind.
Summary
An infant with trisomy D syndrome is described. It shows typical external malformations: mikrocephaly, median cleft lip and palate with intact septum of the nose and tiny praemaxilla-anlage, low set ears, mikrogenia, capillary hemangiomata and malformations of the hands. We found an interventricular septal defect and an unusual malformation of the brain (holoprosencephaly), which is extensively discussed.
A review of the literature concerning malformations of the brain in cases of autosomal trisomy (group D, E, G) is given and the question is discussed, whether there is a connection between extra chromosome and brain development. Many cases of the trisomy D syndrome show a specific malformation of the brain (arrhinencephaly-holoprosencephaly), but the defects in trisomy E syndrome and in Down's syndrome (trisomy G) are not characteristic. It is possible, that chromosomes of group D (13–15) have a specific effect on the development of the brain, probably by influencing the praechordal mesoderme. But malformations of the central nervous system might also be caused by genetical imbalance, which could be responsible too for other defects common to the autosomal trisomies.
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Neuhäuser, G., Usener, M. Hirnmißbildung und autosomale Trisomie. Z. Kinder-Heilk. 95, 244–262 (1966). https://doi.org/10.1007/BF00439032
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DOI: https://doi.org/10.1007/BF00439032