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Case Reports
. 1997 Sep 5;71(4):472-4.
doi: 10.1002/(sici)1096-8628(19970905)71:4<472::aid-ajmg19>3.0.co;2-d.

Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis

F Cools  1 , J Jaeken
Affiliations
Case Reports

Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis

F Cools et al. Am J Med Genet. .

Abstract

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.

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