How to cite this article: Poley JR, Proud VK. 2008. Hardikar syndrome: New features. Am J Med Genet Part A 146A:2473–2479.
Article first published online: 15 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 19, pages 2473–2479, 1 October 2008
How to Cite
Poley, J. R. and Proud, V. K. (2008), Hardikar syndrome: New features. Am. J. Med. Genet., 146A: 2473–2479. doi: 10.1002/ajmg.a.32266
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].
- Issue published online: 22 SEP 2008
- Article first published online: 15 SEP 2008
- Manuscript Accepted: 16 JAN 2008
- Manuscript Received: 27 JUL 2007
- Hardikar syndrome;
- cholestatic liver disease;
- biliary pathology;
- intestinal malrotation;
- cleft lip and palate;
- growth retardation;
- liver transplantation;
- Alagille syndrome
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.