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Perlman syndrome: report of a case with additional radiographic findings
1Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis Children's Hospital, Department of Radiology, 510 So. Kingshighway Blvd., St. Louis, MO 63110, USA.
Pediatric Radiology
|November 1, 1995
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.