Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis.
Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies. We report on the prenatal diagnosis of Marden-Walker syndrome in a fetus which had had a previously affected sib with this syndrome. The ultrasonic findings indicative of the diagnosis in this fetus were intrauterine growth retardation and renal cystic disease. We emphasize the importance of renal anomalies which, when present in combination with other ultrasound evidence of this syndrome, should be used as a clue for the diagnosis of Marden-Walker syndrome.
Ben-Neriah
Z
Z
Department of Human Genetics, Hadassah Medical Center, Jerusalem, Israel.
Yagel
S
S
Ariel
I
I
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography