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.

Prune belly

A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.


合計: 1

                       


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PMID (PMCID)
9561541
 MALE Infant, Newborn
Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes.
Fahmy J, Kaminsky CK, Parisi MT.
Pediatr Radiol. 1998;28(3):179-82.
Findings in Perlman syndrome can overlap with and need to be distinguished from two more common clinical entities: prune-belly and Beckwith-Wiedemann syndromes.