Cekmez Y.,Umraniye Medical and Research Hospital |
Piskinpasa N.,Manisa Government Hospital |
Tos T.,Dr Sami Ulus Medical and Research Hospital
South African Journal of Obstetrics and Gynaecology | Year: 2015
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. © 2015, South African Medical Association. All rights reserved.