Williams syndrome presenting with findings consistent with Alagille syndrome

Clinical Case Reports

Pankaj Sakhuja³  Hilary Whyte³  Binita Kamath¹  Nicole Martin² 

[1] Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada;Division of Neonatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

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

DOI  :  10.1002/ccr3.138

来源: Wiley

【 摘 要 】

Key Clinical Message

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.

【 授权许可】

CC BY-NC   
© 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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