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.

Nephrogenic rest

Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


合計: 1

                       


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PMID (PMCID)
10751085
 MIXED_SAMPLE Infant, Newborn
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.
Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G.
Am J Med Genet. 2000;91(1):29-33.
The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome.