Publications by authors named "Daniel Cailliez"
Article Synopsis
- - Sirenomelia is a rare and severe birth defect with unknown causes, characterized by fused legs and serious internal organ issues.
- - Researchers studied nine families with this condition using advanced exome sequencing, identifying specific genetic variants in the CDX2 gene linked to two family cases, following an autosomal dominant inheritance pattern.
- - The study suggests a genetic role in sirenomelia, revealing additional potential gene variants and emphasizing the importance of the Cdx and Wnt signaling pathways in its development.
We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios.
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