Literature DB >> 2802456

Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child.

R PeBenito1, C Ferretti.   

Abstract

Kabuki makeup syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a dysmorphic disorder of unknown etiology, characterized by unusual facies, large protruding ears, postnatal dwarfism, and mental retardation. The syndrome has been seen almost exclusively in Japanese children. We report a case of KMS that occurred in a child of mixed ethnicity. Differential diagnosis is discussed.

Entities:  

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Year:  1989        PMID: 2802456

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  2 in total

1.  The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Authors:  C Schrander-Stumpel; P Meinecke; G Wilson; G Gillessen-Kaesbach; S Tinschert; R König; N Philip; R Rizzo; J Schrander; L Pfeiffer
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

2.  Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

Authors:  Imtiaz A Chaudhry; Farrukh A Shamsi; Hisham S Alkuraya; Abdulrahman Al-Sharif
Journal:  Int Ophthalmol       Date:  2007-08-16       Impact factor: 2.031

  2 in total

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