Case reports

Cornelia de Lange syndrome – a rarely seen disorder

Yasemin Çekmez, Nilay Pişinpaşa, Tülay Tos

Abstract


Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected children as a result of mosaicism. The syndrome has been diagnosed antenatally by careful ultrasound examination, but is usually only diagnosed after birth. We report the case of a patient admitted to our clinic with intrauterine death of the fetus. CdLS was diagnosed on the basis of multiple structural abnormalities seen after delivery.

Authors' affiliations

Yasemin Çekmez, Department of Obstetrics and Gynaecology, Umraniye Medical and Research Hospital, İstanbul, Turkey

Nilay Pişinpaşa, Department of Obstetrics and Gynaecology, Manisa Government Hospital, Manisa, Turkey

Tülay Tos, Department of Obstetrics and Gynaecology, Dr Sami Ulus Medical and Research Hospital, Ankara, Turkey

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Keywords

Cornelia de Lange syndrome; Microcephaly; Ultrasound

Cite this article

South African Journal of Obstetrics and Gynaecology 2015;21(2):52-53. DOI:10.7196/sajog.890

Article History

Date submitted: 2014-06-11
Date published: 2015-12-11

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