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Article

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.

Prenatal diagnosis - 1 May 2009

Chong Karen, Keating Sarah, Hurst Stephanie, Summers Anne, Berger Howard, Seaward Gareth, Martin Nicole, Friedberg Tami, Chitayat David

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the...

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Source

Identifiers

PMID: 19242925
DOI: 10.1002/pd.2228

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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