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Literature DB >> 12002156

Kabuki syndrome: a review study of three hundred patients.

Marja W Wessels¹, Alice S Brooks, Jeannette Hoogeboom, Martinus F Niermeijer, Patrick J Willems.

Abstract

The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.

Entities: Disease Species

Mesh：

Year: 2002 PMID： 12002156 DOI： 10.1097/00019605-200204000-00004

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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Cited

22 in total

1. Kabuki make-up syndrome.

Authors: M L Kulkarni; Sudarshan K Shetty; V K Chandrasekar; Preethi M Kulkarni
Journal: Indian J Pediatr Date: 2004-09 Impact factor: 1.967

2. Double aortic arch: an unreported anomaly with Kabuki syndrome.

Authors: Sergio Moral; Flavio Zuccarino; Pablo Loma-Osorio
Journal: Pediatr Cardiol Date: 2008-08-07 Impact factor: 1.655

Review 3. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors: Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal: Circulation Date: 2018-11-20 Impact factor: 29.690

4. 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

5. 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

Kabuki syndrome: a review study of three hundred patients.

1. Kabuki make-up syndrome.

2. Double aortic arch: an unreported anomaly with Kabuki syndrome.

Review 3. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

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

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

Review 6. Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

Review 7. [Syndroms associated with benign skin tumors].

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

9. Genetic Basis of Human Congenital Heart Disease.

10. Recurrent dislocation of the patella in kabuki make-up syndrome.