Literature DB >> 8368246

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

S Martínez Santana1, F Pérez Alvarez, J L Frías, M L Martínez-Frías.   

Abstract

We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].

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Year:  1993        PMID: 8368246     DOI: 10.1002/ajmg.1320470105

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


  5 in total

1.  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

2.  Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Authors:  J E Pellegrino; R E Schnur; L Boghosian-Sell; G Strathdee; J Overhauser; N B Spinner; T Stump; K Grace; E H Zackai
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

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

5.  General anesthesia of a Japanese infant with Barber-Say syndrome: a case report.

Authors:  Eisuke Hamaguchi; Yasuo M Tsutsumi; Katsuyoshi Kume; Yoko Sakai; Nami Kakuta; Yuta Uemura; Shinji Kawahito; Katsuya Tanaka
Journal:  JA Clin Rep       Date:  2016-06-02
  5 in total

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