title: Williams syndrome presenting with findings consistent with Alagille syndrome.
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.
authors: Division of Neonatology, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.
authors: Pankaj
authors: P
authors: Sakhuja
authors: Division of Neonatology, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.
authors: Hilary
authors: H
authors: Whyte
authors: Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.
authors: Binita
authors: B
authors: Kamath
authors: The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto Toronto, Ontario, Canada.
authors: Nicole
authors: N
authors: Martin
authors: 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.
authors: David
authors: D
authors: Chitayat
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