Paediatria Croatica, Vol. 54 No. 2, 2010.
Professional paper
MOWAT-WILSON SYNDROME
Ivan Malčić
; KBC Rebro
Marija Vidaković
; KBC Rebro
Hrvoje Kniewald
; KBC Rebro
Daniel Dilber
; KBC Rebro
Jurica Vuković
; KBC Rebro
Andrea Dasović Buljević
; KBC Rebro
Abstract
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.
Keywords
Descriptors: CONGENITAL ABNORMALITIES; GENETIC, MOLECULAR
Hrčak ID:
57880
URI
Publication date:
15.5.2010.
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