Total anomalous pulmonary venous drainage in association with Kaufman syndrome

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.