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.

Polyhydramnios

The presence of excess amniotic fluid in the uterus during pregnancy.


Total: 5

                       


(per page)
PMID (PMCID)
28328139
 FEMALE Child
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
Soma N, Higashimoto K, Imamura M, Saitoh A, Soejima H, Nagasaki K.
Am J Med Genet A. 2017;173(4):1077-1081.
Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios, macrosomia, distinctive facial appearance, renal dysplasia, and a predisposition to Wilms' tumor.
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.
Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor.
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.
16278893
 FEMALE Infant, Newborn
Perlman syndrome: clinical report and nine-year follow-up.
Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G.
Am J Med Genet A. 2005;139A(2):131-5.
Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor.
2840828
 MALE Infant, Newborn
Expanding the spectrum of the Perlman syndrome.
Greenberg F, Copeland K, Gresik MV.
Am J Med Genet. 1988;29(4):773-6.
We report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism.