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Keywords:

  • Hardikar syndrome;
  • cholestatic liver disease;
  • biliary pathology;
  • intestinal malrotation;
  • cleft lip and palate;
  • growth retardation;
  • liver transplantation;
  • Alagille syndrome

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.