Home > Journals > Minerva Pediatrica > Past Issues > Minerva Pediatrica 2001 February;53(1) > Minerva Pediatrica 2001 February;53(1):43-8

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Minerva Pediatrica 2001 February;53(1):43-8

Copyright © 2001 EDIZIONI MINERVA MEDICA

language: English

Niikawa-Kuroki (Kabuki) syndrome in two siblings

Frediani T., Lucarelli S., Bruni L.


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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.

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