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.

Visceromegaly

Abnormal increased size of the viscera of the abdomen.


合計: 4

                       


（表示件数）
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.
Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor.
16912594
 MALE Infant, Newborn
A case of Perlman syndrome presenting with hemorrhagic hemangioma.
Pirgon O, Atabek ME, Akin F, Sert A.
J Pediatr Hematol Oncol. 2006;28(8):531-3.
Perlman syndrome is an autosomal recessively inherited overgrowth syndrome characterized by fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor.
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.