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Hardikar syndrome: New features

Authors

  • J. Rainer Poley,

    Corresponding author
    1. Department of Pediatrics, Section of Pediatric Gastroenterology and Hepatology, Brody School of Medicine, East Carolina University, Greenville, North Carolina
    • Department of Pediatrics, Section of Pediatric Gastroenterology and Hepatology, Brody School of Medicine, East Carolina University, 600 Moye Boulevard, Greenville, NC 27834.
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  • Virginia K. Proud

    1. Department of Pediatrics, Division of Medical Genetics, Children's Hospital of the King's Daughters, Eastern Virginia Medical School, Norfolk, Virginia
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  • How to cite this article: Poley JR, Proud VK. 2008. Hardikar syndrome: New features. Am J Med Genet Part A 146A:2473–2479.

  • Presented in part at the 36th Annual Meeting of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition, June 2003, Prague, Czech Republic, and published in Abstract form [Poley et al. (2003): J Pediatr Gastro Nutr 36: 552].

Abstract

Hardikar syndrome (HS) is a disorder of multiple anomalies predominantly characterized by cleft lip/palate, liver and biliary tract disease, intestinal malrotation, obstructive uropathy, and retinopathy. To date, three patients have been reported with the unusual constellation of chronic liver/biliary tract disease and obvious defects in organogenesis [Hardikar et al. (1992): Am J Med Genet 44: 13–17; Cools and Jaeken (1997): Am J Med Genet 71: 472–474]. With this report, we add another patient with this syndrome. New features, hitherto not reported, were vaginal atresia, a type 1 choledochal cyst and, owing to the progressive nature of the liver disease, the need for liver transplantation. It is intriguing to speculate, that HS could be genetically related to Alagille syndrome (AS), since both conditions share an unusual number of phenotypic abnormalities. © 2008 Wiley-Liss, Inc.

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