Abstract
We describe a clinicoautopsy phenotype of an occipital skull defect, ventriculomegaly,
agenesis of corpus callosum and Dandy Walker Malformation (DWM) with a novel single
base insertion in the TMEM5 gene, known to cause Walker Warburg syndrome. The clinical features of DWM extends
the phenotype, while the pathogenic variant observed expands the mutational spectrum
of the syndrome. This case highlights the importance of detailed postnatal phenotyping
after a pregnancy is discontinued for an antenatallly detected malformation. Fetal
samples must also be preserved for genetic tests to allow an etiological diagnosis
in these situations. It is important for the fetal medicine specialists to remember
to test for single gene disorders, after a normal chromosomal microarray especially
in case of recurrence of a disease in a family.
Keywords
TMEM5
- Walker Warburg - Dandy Walker malformation - Novel mutation
