Literature DB >> 17105332

Cleft palate in Kabuki syndrome: a report of six cases.

Takuya Iida1, Susam Park, Kogo Kato, Ichiko Kitano.   

Abstract

Kabuki syndrome is a syndrome of rare congenital anomalies that was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. Although cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of cleft palate associated with Kabuki syndrome. This report presents six cases of Kabuki syndrome with cleft palate and reviews their clinical features. Our results suggest that (1) patients with cleft palate in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with Kabuki syndrome than previously was reported.

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Year:  2006        PMID: 17105332     DOI: 10.1597/05-174

Source DB:  PubMed          Journal:  Cleft Palate Craniofac J        ISSN: 1055-6656


  4 in total

1.  Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Authors:  Sonoko Sakata; Satoshi Okada; Kohei Aoyama; Keiichi Hara; Chihiro Tani; Reiko Kagawa; Akari Utsunomiya-Nakamura; Shinichiro Miyagawa; Tsutomu Ogata; Haruo Mizuno; Masao Kobayashi
Journal:  Front Genet       Date:  2017-12-11       Impact factor: 4.599

2.  Kabuki Syndrome with Cleft Palate.

Authors:  Joo Myong Paik; So Young Lim
Journal:  Arch Plast Surg       Date:  2016-09-21

3.  Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.

Authors:  Maria de Los Angeles Serrano; Bradley L Demarest; Tarlynn Tone-Pah-Hote; Martin Tristani-Firouzi; H Joseph Yost
Journal:  PLoS Biol       Date:  2019-09-03       Impact factor: 8.029

Review 4.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

  4 in total

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