Literature DB >> 1867254

Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation.

A David1, A Gordeeff, J Badoual, J Delaire.   

Abstract

We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.

Entities:  

Mesh：

Year:  1991        PMID： 1867254     DOI： 10.1002/ajmg.1320390124

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


  6 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.  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

4.  Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.

Authors:  Aditya Kumar Bubna; Mahalakshmi Veeraraghavan; Sankarasubramaniam Anandan; Sudha Rangarajan
Journal:  Int J Trichology       Date:  2015 Apr-Jun

5.  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

6.  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
  6 in total

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