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  • Title: Perlman syndrome: report of a case with additional radiographic findings.
    Author: Herman TE, McAlister WH.
    Journal: Pediatr Radiol; 1995 Nov; 25 Suppl 1():S70-2. PubMed ID: 8577560.
    Abstract:
    Perlman syndrome is a rare autosomal recessive syndrome of macrosomia and nephromegaly associated with a significant predisposition to Wilms tumor. We report a premature infant with Perlman syndrome to demonstrate additional manifestations of this condition: large cisterna magna, intestinal malrotation, and skeletal abnormalities.
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