Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Intestinal malrotation

An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.


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PMID (PMCID)
8577560
 MALE Infant, Newborn
Perlman syndrome: report of a case with additional radiographic findings.
Herman TE, McAlister WH.
Pediatr Radiol. 1995;25 Suppl 1:S70-2.
We report a premature infant with Perlman syndrome to demonstrate additional manifestations of this condition: large cisterna magna, intestinal malrotation, and skeletal abnormalities.