Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings
Prenatal Diagnosis2009Vol. 29(5), pp. 489–494
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Karen Chong, Sarah Keating, Stephanie Hurst, Anne Summers, Howard Berger, Gareth Seaward, Nicole Martin, Tami Friedberg, David Chitayat
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.
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