Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.
We present a child with a remarkable constellation of abnormalities comprising cleft lip and palate, pigmentary retinopathy, hydronephrosis, malrotation of the gut and obstructive liver disease. This patient, together with two other reported cases, seems to represent a new syndrome with some similarities to the Kabuki syndrome.
Cools
F
F
Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Jaeken
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002779:Cholestasis / Q000175:diagnosis; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D002658:Developmental Disabilities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis; D007223:Infant; D007422:Intestines / Q000002:abnormalities; D008107:Liver Diseases / Q000175:diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D013577:Syndrome