Abstract
Kaufman oculo-cerebro-facial syndrome is a rare autosomal recessive disease with very few cases that have been reported in the literature. We present a case of Kaufman oculo-cerebro-facial syndrome with mutation in gene Ubiquitin Protein Ligase E3B (UBE3B) associated with total anomalous pulmonary venous drainage. This association as far as we know has not been previously reported.
•Kaufman syndrome is a very rare disease only few cases published till now.•The disease known to be associated with congenital cardiac disorder•Never described with total anomalous pulmonary venous return•Patient underwent successful surgical repair.