Literature DB >> 2071696

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate.

Y Handa1, K Maeda, M Toida, T Kitajima, J Ishimaru, A Nagai, N Oka.   

Abstract

Kabuki make-up syndrome (Niikawa-Kuroki syndrome), recognized in Japan in 1981, is characterized by mental and growth retardation with specific craniofacial malformation such as lower palpebral eversion and depressed nasal tip. In this paper we describe a case associated with cleft lip and palate. Attention should be paid by maxillofacial surgeons to this syndrome, since 41% of the cases have been associated with cleft lip and palate (Niikawa et al., 1988; Tonoki and Niikawa, 1988).

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Year:  1991        PMID: 2071696     DOI: 10.1016/s1010-5182(05)80570-0

Source DB:  PubMed          Journal:  J Craniomaxillofac Surg        ISSN: 1010-5182            Impact factor:   2.078


  5 in total

1.  Hypothalamic pituitary complications in Kabuki syndrome.

Authors:  Naoko Ito; Kenji Ihara; Yasushi Tsutsumi; Noriko Miyake; Naomichi Matsumoto; Toshiro Hara
Journal:  Pituitary       Date:  2013-06       Impact factor: 4.107

2.  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

3.  A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Authors:  Masaki Takagi; Tomohiro Ishii; Chiharu Torii; Kenjiro Kosaki; Tomonobu Hasegawa
Journal:  Pituitary       Date:  2014-12       Impact factor: 4.107

4.  Success or failure of endodontic treatments: A retrospective study.

Authors:  Airton Oliveira Santos-Junior; Lidiane De Castro Pinto; Jose Francisco Mateo-Castillo; Claudia Ramos Pinheiro
Journal:  J Conserv Dent       Date:  2019 Mar-Apr

5.  Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

Authors:  Yasemin Topcu; Erhan Bayram; Pakize Karaoglu; Uluc Yis; Semra Hız Kurul
Journal:  J Pediatr Neurosci       Date:  2013-09
  5 in total

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