These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Niikawa-Kuroki (Kabuki) syndrome in two siblings.
    Author: Frediani T, Lucarelli S, Bruni L.
    Journal: Minerva Pediatr; 2001 Feb; 53(1):43-8. PubMed ID: 11309542.
    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.
    [Abstract] [Full Text] [Related] [New Search]