Pränatale Diagnose eines Thanatophoren Zwergwuchses mit Kleeblattschädel - ultrasonographische Befunde, humangenetische Aspekte

Abstract

The ultrasonographic criteria for the prenatal diagnosis of thanatophore dwarfism with clover leaf skull are described. Facultative morbid anatomical peculiarities are described. Because of the prenatal findings the pregnancy was terminated by Caesarean Section at 30 weeks gestation in our case. Following the death of the infant the diagnosis was confirmed by radiological investigations and by autopsy. The ultrasonographic differential diagnosis from other types of dwarfism is discussed. The human genetic aspects are discussed with emphasis on the counselling regarding further pregnancies.