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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.
AuthorsZ Ben-Neriah, S Yagel, I Ariel
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 57 Issue 3 Pg. 417-9 (Jul 3 1995) ISSN: 0148-7299 [Print] UNITED STATES
PMID7677143 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (embryology, genetics, ultrasonography)
  • Female
  • Fetal Growth Retardation (embryology, genetics, ultrasonography)
  • Humans
  • Kidney Diseases, Cystic (embryology, genetics, ultrasonography)
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome

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