Case Reports in Genetics / 2012 / Article / Tab 1

Case Report

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Table 1

Clinical features of our patient compared to those in published cases of MWS with proven ZEB2 mutations.

Clinical features Our patientMowat-Wilson syndrome*

ZEB2 mutations+100%
Intellectual disability +100%
Typical facial gestalt +97%
Microcephaly +81%
Seizures +73%
HSCR −**57%
CHD −**52%
Hypospadias 52%
Short stature +46%
Hypoplasia or agenesis of CCA NT43%
Cryptorchidism 36%
Constipation 26%
Pyloric stenosis 4.7%
Eye anomalies 4.1%
Cleft palate 2.9%

*Adapted from Garavelli and Mainardi (2007) [4].
**Symptoms not observed although the gold standard diagnosis has not been performed.
NT: Not Tested, HSCR: Hirschprung Disease, CHD: Congenital Heart Defect, CCA: Corpus Callosum.

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