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.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts.


Total: 2

                       


(per page)
PMID (PMCID)
20726997
 FEMALE Infant, Newborn
Rare clinical entity Perlman syndrome: is cholestasis a new finding?
Demirel G, Oguz SS, Celik IH, Uras N, Erdeve O, Dilmen U.
Congenit Anom (Kyoto). 2011;51(1):43-5.
Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, facial dysmorphism, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal abnormalities that are observed with Perlman syndrome.
20726997
 FEMALE Infant, Newborn
Rare clinical entity Perlman syndrome: is cholestasis a new finding?
Demirel G, Oguz SS, Celik IH, Uras N, Erdeve O, Dilmen U.
Congenit Anom (Kyoto). 2011;51(1):43-5.
Rare clinical entity Perlman syndrome: is cholestasis a new finding?