[Mowat-Wilson syndrome: a report of three Danish cases].

Abstract

Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS.

• Authors: Karin Bækgaard Nissen, Charlotte Søndergaard, Thomas Thelle, Rikke Steensbjerre Møller
• Journal: Ugeskrift for laeger (Ugeskr Laeger) Vol. 173 Issue 36 Pg. 2199-200 (Sep 05 2011) ISSN: 1603-6824 [Electronic] Denmark
• Vernacular Title: Mowat-Wilson-syndrom hos tre danske børn.
• PMID: 21893004 (Publication Type: Case Reports, Journal Article)

Chemical References

• Homeodomain Proteins
• Repressor Proteins
• ZEB2 protein, human
• Zinc Finger E-box Binding Homeobox 2

Topics

• Child
• Denmark
• Facies
• Female
• Hirschsprung Disease (diagnosis, genetics)
• Homeodomain Proteins (genetics)
• Humans
• Intellectual Disability (diagnosis, genetics)
• Male
• Microcephaly (diagnosis, genetics)
• Repressor Proteins (genetics)
• Zinc Finger E-box Binding Homeobox 2