Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis.

Abstract

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.

• Authors: Z Ben-Neriah, S Yagel, I Ariel
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 57 Issue 3 Pg. 417-9 (Jul 03 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7677143 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, embryology, genetics)
• Female
• Fetal Growth Retardation (diagnostic imaging, embryology, genetics)
• Humans
• Kidney Diseases, Cystic (diagnostic imaging, embryology, genetics)
• Pregnancy
• Prenatal Diagnosis
• Syndrome
• Ultrasonography