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Literature DB >> 8048822

Coarctation of the aorta in Kabuki syndrome.

Abstract

The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation occurs with a frequency of 25%.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 8048822 PMCID： PMC1029872 DOI： 10.1136/adc.70.6.512

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

8 in total

1. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Authors: N Philip; P Meinecke; A David; J Dean; S Ayme; R Clark; E Gross-Kieselstein; D Hosenfeld; A Moncla; D Muller
Journal: Clin Dysmorphol Date: 1992-04 Impact factor: 0.816

Review 2. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Authors: N Niikawa; Y Kuroki; T Kajii; N Matsuura; S Ishikiriyama; H Tonoki; N Ishikawa; Y Yamada; M Fujita; H Umemoto
Journal: Am J Med Genet Date: 1988-11

3. Three patients with ring (X) chromosomes and a severe phenotype.

Authors: N R Dennis; A L Collins; J A Crolla; A E Cockwell; A M Fisher; P A Jacobs
Journal: J Med Genet Date: 1993-06 Impact factor: 6.318

4. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Authors: Y Kuroki; Y Suzuki; H Chyo; A Hata; I Matsui
Journal: J Pediatr Date: 1981-10 Impact factor: 4.406

5. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors: N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal: J Pediatr Date: 1981-10 Impact factor: 4.406

6. Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome.

Authors: M J Miller; M E Geffner; B M Lippe; R M Itami; S A Kaplan; T G DiSessa; J B Isabel-Jones; W F Friedman
Journal: J Pediatr Date: 1983-01 Impact factor: 4.406

7. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Authors: P J Scambler; D Kelly; E Lindsay; R Williamson; R Goldberg; R Shprintzen; D I Wilson; J A Goodship; I E Cross; J Burn
Journal: Lancet Date: 1992-05-09 Impact factor: 79.321

8. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

Authors: S Ohdo; H Madokoro; T Sonoda; T Nishiguchi; K Kawaguchi; K Hayakawa
Journal: J Med Genet Date: 1985-04 Impact factor: 6.318

8 in total

9 in total

1. A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.

Authors: Raveen Shahdadpuri; Sally Ann Lynch; H Murchan; Colin J McMahon
Journal: Pediatr Cardiol Date: 2008-02-19 Impact factor: 1.655

2. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Authors: Peter M Van Laarhoven; Leif R Neitzel; Anita M Quintana; Elizabeth A Geiger; Elaine H Zackai; David E Clouthier; Kristin B Artinger; Jeffrey E Ming; Tamim H Shaikh
Journal: Hum Mol Genet Date: 2015-05-13 Impact factor: 6.150

3. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Authors: Damien Lederer; Bernard Grisart; Maria Cristina Digilio; Valérie Benoit; Marianne Crespin; Sophie Claire Ghariani; Isabelle Maystadt; Bruno Dallapiccola; Christine Verellen-Dumoulin
Journal: Am J Hum Genet Date: 2011-12-22 Impact factor: 11.025

4. Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency.

Authors: Akifusa Wada; Tomoyuki Nakamura; Toru Yamaguchi; Haruhisa Yanagida; Kazuyuki Takamura; Yutaka Oketani; Hideaki Kubota; Toshio Fujii
Journal: J Child Orthop Date: 2012-07-24 Impact factor: 1.548