title: Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.
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.
authors.affiliation: Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Bailey
authors.affiliation: Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK. Electronic address: alan.fryer@lwh.nhs.uk.
authors.forename: Alan E
authors.initials: AE
authors.lastname: Fryer
authors.affiliation: Bristol Genetics Laboratory, Southmead Hospital, Bristol, BS10 5NB.
authors.forename: Mark
authors.initials: M
authors.lastname: Greenslade
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D054068:Livedo Reticularis / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D047928:Premature Birth; D013684:Telangiectasis / Q000235:genetics; D006113:United Kingdom
chemical_list: D004265:DNA Helicases; C101830:DDX11 protein, human; D053487:DEAD-box RNA Helicases
keywords: Cohesinopathy; Cutaneous; DDX11; Warsaw Breakage Syndrome (WABS)