Bailey Claire, Fryer Alan E, Greenslade Mark
Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK.
Department of Clinical Genetics, Liverpool Women's Hospital, Crown Street, Liverpool, L8 7SS, UK.
Eur J Med Genet. 2015 Apr;58(4):235-7. doi: 10.1016/j.ejmg.2015.02.001. Epub 2015 Feb 19.
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.
我们报告了一例新的华沙断裂综合征（WABS）病例，该病例在DDX11基因中有2个已确认的突变。与之前报道的病例[Capo-Chichi等人，2012年；Van der Lelij等人，2010年]一样，有证据表明存在产前和产后生长发育迟缓、严重小头畸形、智力残疾和面部畸形。该患者患有感音神经性听力损失，影像学显示双侧耳蜗发育不全，这是之前WABS病例中也曾报道过的另一特征。在我们的病例中，患者腿部出现伴有毛细血管扩张的慢性网状青斑皮疹。原始的WABS病例报告中存在色素沉着异常病变和皮肤大理石样纹理。
