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Niikawa-Kuroki (Kabuki) syndrome in two siblings
T Frediani1, S Lucarelli, L Bruni
1Department of Pediatrics, University of Rome La Sapienza, Rome, Italy. tufredi@tin.it
Minerva Pediatrica
|April 20, 2001
Abstract:
The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.