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Journal of Medical Genetics 1985;22:126-127; doi:10.1136/jmg.22.2.126
Copyright © 1985 by the BMJ Publishing Group Ltd.

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

S Ohdo, H Madokoro, T Sonoda, T Nishiguchi, K Kawaguchi, K Hayakawa

Kabuki make-up syndrome has been reported mainly among Japanese, so far occurring in more than 20 cases. Among these, however, only one case associated with congenital heart defect has been reported. We have treated three patients with this syndrome and of these two had congenital heart disease. We suggest the possibility that the association of congenital heart disease with Kabuki make-up syndrome may not be fortuitous.


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