VENTRICULOMEGALY WITH RADIAL AND RENAL DEFECTS - PRENATAL-DIAGNOSIS IN 2 CONSECUTIVE SIBS

We describe two consecutive mid-trimester fetuses of different sexes w ith identical anomalies of the upper limbs and the kidneys in associat ion with severe ventriculomegaly, We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unparalleled syndromes, Taking into account the absence of chromosome breaks, the associated changes of the amniotic fluid, an d the renal histology, we conclude that we are dealing with a differen t entity. (C) 1997 Wiley-Liss, Inc.