Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

doi:10.1016/j.ejmg.2015.02.001

Case Reports

. 2015 Apr;58(4):235-7.

doi: 10.1016/j.ejmg.2015.02.001. Epub 2015 Feb 19.

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

Claire Bailey¹, Alan E Fryer², Mark Greenslade³

Affiliations

¹ Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK.
² Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK. Electronic address: alan.fryer@lwh.nhs.uk.
³ Bristol Genetics Laboratory, Southmead Hospital, Bristol, BS10 5NB.

PMID: 25701697
DOI: 10.1016/j.ejmg.2015.02.001

Case Reports

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

Claire Bailey et al. Eur J Med Genet. 2015 Apr.

. 2015 Apr;58(4):235-7.

doi: 10.1016/j.ejmg.2015.02.001. Epub 2015 Feb 19.

Authors

Claire Bailey¹, Alan E Fryer², Mark Greenslade³

Affiliations

¹ Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK.
² Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK. Electronic address: alan.fryer@lwh.nhs.uk.
³ Bristol Genetics Laboratory, Southmead Hospital, Bristol, BS10 5NB.

PMID: 25701697
DOI: 10.1016/j.ejmg.2015.02.001

Abstract

We report a new case of Warsaw Breakage syndrome (WABS) with 2 confirmed mutations in DDX11. Like the previous reported cases [Capo-Chichi et al., 2012; Van der Lelij et al., 2010], there was evidence of pre- and postnatal growth retardation, severe microcephaly, intellectual disability and facial dysmorphism. The patient had sensorineural hearing loss with evidence of bilateral hypoplastic cochleas on imaging, another feature which has been reported in the previous cases of WABS. In our case the patient exhibited a chronic rash of livedo reticularis with telangiectasia on her legs. Abnormally pigmented lesions and cutis mamorata were reported in the original WABS case.

Keywords: Cohesinopathy; Cutaneous; DDX11; Warsaw Breakage Syndrome (WABS).

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Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

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Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

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