Z. Benneriah et al., RENAL ANOMALIES IN MARDEN-WALKER SYNDROME - A CLUE FOR PRENATAL-DIAGNOSIS, American journal of medical genetics, 57(3), 1995, pp. 417-419
Marden-Walker syndrome is an autosomal-recessive disorder characterize
d by psychomotor retardation, blepharophimosis, joint contractures, ar
achnodactyly, failure to thrive, and, infrequently, renal anomalies. W
e report on the prenatal diagnosis of Marden-Walker syndrome in a fetu
s which had had a previously affected sib with this syndrome. The ultr
asonic findings indicative of the diagnosis in this fetus were intraut
erine growth retardation and renal cystic disease. We emphasize the im
portance of renal anomalies which, when present in combination with ot
her ultrasound evidence of this syndrome, should be used as a clue for
the diagnosis of Marden-Walker syndrome. (C) 1995 Wiley-Liss, Inc.