n South African Journal of Obstetrics and Gynaecology - Cornelia de Lange syndrome - a rarely seen disorder : case report
|Article Title||Cornelia de Lange syndrome - a rarely seen disorder : case report|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Journal of Obstetrics and Gynaecology|
|Affiliations||1 Umraniye Medical and Research Hospital, Turkey, 2 Manisa Government Hospital, Turkey and 3 Dr Sami Ulus Medical and Research Hospital, Turkey|
|Publication Date||Jan 2015|
|Pages||52 - 53|
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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