De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

Anand Ramineni; David Coman

doi:10.1177/2329048X16666362

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

Child Neurol Open. 2016 Sep 1:3:2329048X16666362. doi: 10.1177/2329048X16666362. eCollection 2016 Jan-Dec.

Authors

Anand Ramineni^{1

2

3

4}, David Coman^{1

2

3

4

5}

Affiliations

¹ Department of Paediatrics, The Wesley Hospital, Brisbane, Queensland, Australia.
² Discipline of Paediatrics, UnitingCare Clinical School, Brisbane, Queensland, Australia.
³ Neuroscience Department, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
⁴ School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
⁵ School of Medicine, Griffith University, Gold Coast, Queensland, Australia.

Abstract

Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2, ZIC1, and ZIC4. This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype.

Keywords: Dandy-Walker malformation; Wisconsin syndrome; microdeletion.