Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Perlman syndrome: report, prenatal findings and review.

American journal of medical genetics. Part A - 1 Oct 2008

Alessandri Jean-Luc, Cuillier Fabrice, Ramful Duksha, Ernould Sandrine, Robin Stéphanie, de Napoli-Cocci Stefan, Rivière Jean-Pierre, Rossignol Sylvie

Abstract excerpt

Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amniotic Fluid
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Syndrome

Share to Ultrasonography, Prenatal

Share to Wilms Tumor

Source

Identifiers

PMID: 18780370
DOI: 10.1002/ajmg.a.32391

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Perlman syndrome: report, prenatal findings and review.PMID 18780370Read ↗

Perlman syndrome: Four additional cases and reviewSemantic proximity Read ↗

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.Semantic proximity Read ↗

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.Semantic proximity Read ↗

Prenatal Ultrasound and Genetic Analysis of PIK3CA-Related Fetal Overgrowth: A Case ReportSemantic proximity Read ↗

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.Semantic proximity Read ↗

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.Semantic proximity Read ↗

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.Semantic proximity Read ↗

Molecular genetics of Wiedemann-Beckwith syndromeSemantic proximity Read ↗

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.Semantic proximity Read ↗

Polyhydramnios complicated by genetic mutation related diseases: a case reportSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.