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Literature DB >> 2801772

Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.

Abstract

We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make-up syndrome.

Entities: Disease

Mesh：

Year: 1989 PMID： 2801772 DOI： 10.1002/ajmg.1320330317

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

9 in total

1. Case report: autistic disorder in Kabuki syndrome.

Authors: Burcu Akin Sari; Kadri Karaer; Sahin Bodur; A Sebnem Soysal
Journal: J Autism Dev Disord Date: 2007-08-25

2. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal: BMJ Case Rep Date: 2009-06-30

3. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Authors: Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa
Journal: Am J Med Genet A Date: 2012-06-27 Impact factor: 2.802

Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.

1. Case report: autistic disorder in Kabuki syndrome.

2. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

3. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

4. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

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

6. [Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis].

7. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

8. Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children.

9. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.