Ventriculomegaly with radial and renal defects: prenatal diagnosis in two consecutive sibs.
We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association 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, and the renal histology, we conclude that we are dealing with a different entity.
Kovács
T
T
Department of Obstetrics and Gynaecology, University Medical School of Debrecen, Hungary.
Csécsei
K
K
Szabó
M
M
Tóth
Z
Z
Veress
L
L
Papp
Z
Z
D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology*; D008297:Male; D009679:Nuclear Family; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011884:Radius / Q000002:abnormalities* / Q000473:pathology*; D013577:Syndrome