Perlman syndrome: report of a case with additional radiographic findings

T E Herman; W H McAlister

Perlman syndrome: report of a case with additional radiographic findings

Pediatr Radiol. 1995 Nov:25 Suppl 1:S70-2.

Authors

T E Herman¹, W H McAlister

Affiliation

¹ 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.

PMID: 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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Bone and Bones / abnormalities
Cisterna Magna / abnormalities
Fetal Macrosomia / genetics
Genes, Recessive
Humans
Infant, Newborn
Infant, Premature, Diseases / diagnosis*
Infant, Premature, Diseases / genetics
Intestines / abnormalities
Kidney / abnormalities
Male
Syndrome