Williams syndrome presenting with findings consistent with Alagille syndrome.

• 发表时间: Jan 2015
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.138
• PMID: 25678968
• 文章类型: Case Reports
• 作者列表: Sakhuja P,Whyte H,Kamath B,Martin N,Chitayat D

关键词: 7q11.23; Alagille syndrome; IUGR; JAG 1 mutation; Williams syndrome; atypical phenotype; coarctation of abdominal aorta; conjugated hyperbilirubinemia; contiguous gene disorder; embryotoxon; narrowing of cervical canal

Abstract

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.