Williams syndrome presenting with findings consistent with Alagille syndrome

Pankaj Sakhuja; Hilary Whyte; Binita Kamath; Nicole Martin; David Chitayat

doi:10.1002/ccr3.138

Williams syndrome presenting with findings consistent with Alagille syndrome

Clin Case Rep. 2015 Jan;3(1):24-8. doi: 10.1002/ccr3.138. Epub 2014 Nov 7.

Authors

Pankaj Sakhuja¹, Hilary Whyte¹, Binita Kamath², Nicole Martin³, David Chitayat⁴

Affiliations

¹ Division of Neonatology, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.
² Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.
³ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto Toronto, Ontario, Canada.
⁴ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto Toronto, Ontario, Canada ; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.

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.

Keywords: 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.

Publication types

Case Reports