Literature DB >> 7545868

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

J C Ramer1, A E Lin, W B Dobyns, R Winter, S Aymé, R Pallotta, R L Ladda.   

Abstract

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

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Mesh：

Year:  1995        PMID： 7545868     DOI： 10.1002/ajmg.1320570308

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


  7 in total

1.  Lissencephaly: Expanded imaging and clinical classification.

Authors:  Nataliya Di Donato; Sara Chiari; Ghayda M Mirzaa; Kimberly Aldinger; Elena Parrini; Carissa Olds; A James Barkovich; Renzo Guerrini; William B Dobyns
Journal:  Am J Med Genet A       Date:  2017-04-25       Impact factor: 2.802

2.  Developmental differences of the major forebrain commissures in lissencephalies.

Authors:  S Kara; P Jissendi-Tchofo; A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2010-06-03       Impact factor: 3.825

3.  Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Authors:  Anna Sandestig; Anna Green; Jon Jonasson; Hartmut Vogt; Johan Wahlström; Alexander Pepler; Katarina Ellnebo; Saskia Biskup; Margarita Stefanova
Journal:  Mol Syndromol       Date:  2018-08-09

4.  A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

Authors:  Andrew Kemerley; Christina Sloan; Wanda Pfeifer; Richard Smith; Arlene Drack
Journal:  Ophthalmic Genet       Date:  2016-04-20       Impact factor: 1.803

5.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

6.  De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Authors:  Jean-Baptiste Rivière; Bregje W M van Bon; Alexander Hoischen; Stanislav S Kholmanskikh; Brian J O'Roak; Christian Gilissen; Sabine Gijsen; Christopher T Sullivan; Susan L Christian; Omar A Abdul-Rahman; Joan F Atkin; Nicolas Chassaing; Valerie Drouin-Garraud; Andrew E Fry; Jean-Pierre Fryns; Karen W Gripp; Marlies Kempers; Tjitske Kleefstra; Grazia M S Mancini; Małgorzata J M Nowaczyk; Conny M A van Ravenswaaij-Arts; Tony Roscioli; Michael Marble; Jill A Rosenfeld; Victoria M Siu; Bert B A de Vries; Jay Shendure; Alain Verloes; Joris A Veltman; Han G Brunner; M Elizabeth Ross; Daniela T Pilz; William B Dobyns
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

7.  Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.

Authors:  Seth Andrew Climans; Seyed M Mirsattari
Journal:  Epilepsy Behav Case Rep       Date:  2017-03-18
  7 in total

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