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

Eur J Med Genet. 2015 Apr;58(4):235-7. doi: 10.1016/j.ejmg.2015.02.001. Epub 2015 Feb 19.

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).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • DEAD-box RNA Helicases / genetics*
  • DNA Helicases / genetics*
  • Facies
  • Female
  • Fetal Growth Retardation / genetics
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Intellectual Disability / genetics
  • Livedo Reticularis / genetics
  • Microcephaly / genetics
  • Premature Birth
  • Telangiectasis / genetics
  • United Kingdom

Substances

  • DNA Helicases
  • DDX11 protein, human
  • DEAD-box RNA Helicases