title: Hardikar syndrome: new features.
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.
authors.affiliation: Department of Pediatrics, Section of Pediatric Gastroenterology and Hepatology, Brody School of Medicine, East Carolina University, Greenville, North Carolina 27834, USA. poleyr@ecu.edu
authors.forename: J Rainer
authors.initials: JR
authors.lastname: Poley
authors.forename: Virginia K
authors.initials: VK
authors.lastname: Proud
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D001659:Biliary Tract / Q000473:pathology; D002648:Child; D015529:Choledochal Cyst / Q000473:pathology / Q000601:surgery; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics; D002971:Cleft Lip / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D007422:Intestines / Q000002:abnormalities / Q000601:surgery; D007565:Jaundice / Q000175:diagnosis / Q000235:genetics; D008099:Liver / Q000473:pathology / Q000503:physiopathology; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016031:Liver Transplantation; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal; D014519:Ureterostomy; D014621:Vagina / Q000002:abnormalities