INTRODUCTION: Mowat-Wilson syndrome is a congenital syndrome caused by a defect 
of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. 
The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations 
result in a recognizable facial dysmorphism with a multiple congenital anomaly 
and mental retardation.
CASE REPORT: This report is about one new patient from Croatia with the typical 
phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 
8: c.2372del C; p.T791fsX816). This mutation has not been reported before. The 
literature is reviewed.
CONCLUSION: Mowat-Wilson syndrome is a newly described congenital syndrome and 
should be considered in any individual with characteristic facial features and 
mental retardation in associations with congenital malformations.