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.

Fetal ascites

Accumulation of fluid in the peritoneal cavity during the fetal period.


合計: 1

                       


（表示件数）
PMID (PMCID)
18780370
 FEMALE Infant, Newborn
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Riviere JP, Rossignol S.
Am J Med Genet A. 2008;146A(19):2532-7.
We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia.