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Prenat Diagn. 2009 May;29(5):489-94. doi: 10.1002/pd.2228.

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

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1
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Abstract

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 autopsy and the NIPBL gene mutation analysis.

PMID:
19242925
DOI:
10.1002/pd.2228
[Indexed for MEDLINE]
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