Literature DB >> 20830793

Oral and dental abnormalities in Barber-Say syndrome.

Fabiana Martins1, Karem Lopez Ortega, Cybelle Hiraoka, Patricia Ricardo, Marina Magalhães.   

Abstract

A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. A 7-year-old female with multiple congenital anomalies such mammary gland hypoplasia, hypertrichosis, ectropion, and redundant skin was seen at the School of Dentistry of the University of São Paulo. Oral examination revealed macrostomia, broad alveolar ridges, gingival fibromatosis, taurodontism, delayed tooth eruption, and malocclusion. Dental treatment included gingivoplasty and orthodontic treatment.
Copyright © 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20830793     DOI: 10.1002/ajmg.a.32898

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

Authors:  Beatrice De Maria; Tresia de Jager; Caitlin Sarubbi; Oliver Bartsch; Alberto Bianchi; Francesco Brancati; Hon-Yin B Chung; Albert David; Ariana Kariminejad; Maura Foresti; Marina Gallottini; Bertrand Isidor; Shannon Marchegiani; Fabiana Martins; Laura Mazzanti; Nathalie Roche; Ankur Singh; Cathy Stevens; Kenichi Suga; Martin Zenker; Raoul C Hennekam
Journal:  Mol Syndromol       Date:  2017-04-27

2.  Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:  Shannon Marchegiani; Taylor Davis; Federico Tessadori; Gijs van Haaften; Francesco Brancati; Alexander Hoischen; Haigen Huang; Elise Valkanas; Barbara Pusey; Denny Schanze; Hanka Venselaar; Anneke T Vulto-van Silfhout; Lynne A Wolfe; Cynthia J Tifft; Patricia M Zerfas; Giovanna Zambruno; Ariana Kariminejad; Farahnaz Sabbagh-Kermani; Janice Lee; Maria G Tsokos; Chyi-Chia R Lee; Victor Ferraz; Eduarda Morgana da Silva; Cathy A Stevens; Nathalie Roche; Oliver Bartsch; Peter Farndon; Eva Bermejo-Sanchez; Brian P Brooks; Valerie Maduro; Bruno Dallapiccola; Feliciano J Ramos; Hon-Yin Brian Chung; Cédric Le Caignec; Fabiana Martins; Witold K Jacyk; Laura Mazzanti; Han G Brunner; Jeroen Bakkers; Shuo Lin; May Christine V Malicdan; Cornelius F Boerkoel; William A Gahl; Bert B A de Vries; Mieke M van Haelst; Martin Zenker; Thomas C Markello
Journal:  Am J Hum Genet       Date:  2015-06-25       Impact factor: 11.025

3.  A case of Barber-Say syndrome in a male Japanese newborn.

Authors:  Kenichi Suga; Miki Shono; Aya Goji; Sato Matsuura; Miki Inoue; Masami Kawahito; Michiyo Kinoshita; Misa Takeda; Kazuhiro Mori
Journal:  Clin Case Rep       Date:  2014-09-04

4.  Barber-say syndrome: a confirmed case of TWIST2 gene mutation.

Authors:  Mulakkan David Yohannan; Jennifer Hilgeman; Katlin Allsbrook
Journal:  Clin Case Rep       Date:  2017-06-02

Review 5.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Authors:  Piero Pavone; Andrea D Praticò; Raffaele Falsaperla; Martino Ruggieri; Marcella Zollino; Giovanni Corsello; Giovanni Neri
Journal:  Ital J Pediatr       Date:  2015-08-05       Impact factor: 2.638

  5 in total

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