RENAL ANOMALIES IN MARDEN-WALKER SYNDROME - A CLUE FOR PRENATAL-DIAGNOSIS

Citation
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
Citations number
13
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
57
Issue
3
Year of publication
1995
Pages
417 - 419
Database
ISI
SICI code
0148-7299(1995)57:3<417:RAIMS->2.0.ZU;2-E
Abstract
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.