Mowat-Wilson syndrome
DOI:
https://doi.org/10.13112/pc.840Ključne riječi:
CONGENITAL ABNORMALITIES, GENETIC, MOLECULARSažetak
We report on two children with phenotypic characteristics of Mowat-Wilson syndrome associated with complex cardiac malformations. In molecular genetic analysis one of our patients had the expected mutation on the 2q22 chromosome. The purpose of this report is to point out the presence of a serious syndrome in paediatric cardiology, which certainly affects the final outcome of the disease. Diagnosis of Mowat-Wilson syndrome cannot be set without a detailed evaluation of the dysmorphic features and molecular genetic analysis. This approach demands more creativity and engagement of the paediatric cardiologist.
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