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ROENTGENOGRAPHIC FEATURES OF THE CEREBROHEPATORENAL SYNDROME OF ZELLWEGER

J. POWELL WILLIAMS M.D., LEE SECRIST M.D., GLENN W. FOWLER M.D., J. L. GWINN M.D., and KENNETH C. DUMARS M.D.

Two cases of cerebrohepatorenal syndrome of Zellweger are reported with clinical, laboratory and roentgenographic findings.

The findings of a stippled acetabular "Y" cartilage and a stippled scimitar-shaped calcification of the inferior medial margin of the patella in an infant with the clinical findings of the Zellweger syndrome are thought to be pathognomonic.

Differentiation is made from several other syndromes that manifest calcific stippling in various portions of the skeleton.


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R. Hanson, P Szczepanik-VanLeeuwen, G. Williams, G Grabowski, and H. Sharp
Defects of bile acid synthesis in Zellweger's syndrome
Science, March 16, 1979; 203(4385): 1107 - 1108.
[Abstract] [PDF]


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