Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
Open Access
- 1 April 1985
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (2) , 126-127
- https://doi.org/10.1136/jmg.22.2.126
Abstract
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.This publication has 2 references indexed in Scilit:
- A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationThe Journal of Pediatrics, 1981
- Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyThe Journal of Pediatrics, 1981