A case of Marden-Walker syndrome with Dandy-Walker malformation

Clinical Genetics
F OzkinayM Arcasoy

Abstract

A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging.

References

Jun 15, 1991·American Journal of Medical Genetics·N LinderA Sommer
Jan 1, 1990·Pediatric Pathology·J N SeesR L Ladda
Apr 1, 1987·American Journal of Medical Genetics·D GossageM G Butler
Sep 1, 1966·American Journal of Diseases of Children·P M Marden, W A Walker
Mar 1, 1982·American Journal of Medical Genetics·N Y JaatoulV M Der Kaloustian

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Citations

Aug 31, 1999·Clinical Genetics·M R RiveraS Kofman-Alfaro
Nov 9, 2007·Congenital Anomalies·George ImatakaOsamu Arisaka

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