Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes.

Abstract

Perlman syndrome is a rare entity characterized by hypotonia, facial dysmorphism, gigantism, and visceromegaly including nephromegaly. The current case illustrates the ultrasonographic and computed tomographic appearances of renal abnormalities in this condition. Findings in Perlman syndrome can overlap with and need to be distinguished from two more common clinical entities: prune-belly and Beckwith-Wiedemann syndromes. Additional cranial findings previously unreported are also described.

• Authors: J Fahmy, C K Kaminsky, M T Parisi
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 28 Issue 3 Pg. 179-82 (Mar 1998) ISSN: 0301-0449 [Print] Germany
• PMID: 9561541 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Beckwith-Wiedemann Syndrome (diagnosis)
• Diagnosis, Differential
• Face (abnormalities, diagnostic imaging)
• Fatal Outcome
• Follow-Up Studies
• Gigantism (diagnosis)
• Humans
• Hypotension (diagnosis)
• Infant, Newborn
• Kidney (abnormalities, diagnostic imaging)
• Male
• Prune Belly Syndrome (diagnosis)
• Syndrome
• Tomography, X-Ray Computed
• Ultrasonography