n South African Journal of Obstetrics and Gynaecology - Cornelia de Lange syndrome - a rarely seen disorder : case report




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.


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