Pränataldiagnostik des Pena-Shokeir-Syndroms in der 27. Schwangerschaftswoche

: We report on the prenatal diagnosis of a Pena-Shokeir syndrome sporadic case of the 27th week of pregnancy. Typical sonographical features are polyhydramnios, hypoplasia of lungs, foetal akinesia, reduced length of proximal and distal extremities and a striking discrepancy between biparietal and abdominal diameter. Differential diagnosis of polyhydramnios caused by foetal neuromuscular disorders is discussed.