Mowat-Wilson syndrome

Authors

  • I. Malčić -
  • M. Vidaković -
  • H. Kniewald -
  • D. Dilber -
  • J. Vuković -
  • A. Dasović-Buljević -

DOI:

https://doi.org/10.13112/pc.840

Keywords:

CONGENITAL ABNORMALITIES, GENETIC, MOLECULAR

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.

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Published

2010-06-30

Issue

Vol. 54 No. 2 (2010)

Section

Case Report

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.

How to Cite

Malčić, I., Vidaković, M., Kniewald, H., Dilber, D., Vuković, J., & Dasović-Buljević, A. (2010). Mowat-Wilson syndrome. Paediatria Croatica, 54(2), 105-109. https://doi.org/10.13112/pc.840

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