Perlman syndrome: report of a case with additional radiographic findings.
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.
Herman
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Mallinckrodt 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.
McAlister
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D002946:Cisterna Magna / Q000002:abnormalities; D005320:Fetal Macrosomia / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics; D007422:Intestines / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities; D008297:Male; D013577:Syndrome