Literature DB >> 3351890

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

M Baraitser1, R M Winter.   

Abstract

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Entities:  

Mesh：

Year:  1988        PMID： 3351890      PMCID： PMC1015421          DOI： 10.1136/jmg.25.1.41

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  Noonan syndrome: the changing phenotype.

Authors:  J E Allanson; J G Hall; H E Hughes; M Preus; R D Witt
Journal:  Am J Med Genet       Date:  1985-07

3.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

Authors:  R A Pagon; J M Graham; J Zonana; S L Yong
Journal:  J Pediatr       Date:  1981-08       Impact factor: 4.406

4.  Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Authors:  M D King; J Dudgeon; J B Stephenson
Journal:  Arch Dis Child       Date:  1984-08       Impact factor: 3.791
  4 in total
  18 in total

Review 1.  When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Authors:  Evelien G G Sprenkeler; Steven D S Webbers; Taco W Kuijpers
Journal:  J Innate Immun       Date:  2020-08-26       Impact factor: 7.349

2.  Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.

Authors:  Julian Letícia Freitas; Thiago Cardoso Vale; Orlando G P Barsottini; José Luiz Pedroso
Journal:  Mov Disord Clin Pract       Date:  2019-11-14

3.  The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

Authors:  Tanya C Allawh; Barry Scott Brown
Journal:  J Pediatr Genet       Date:  2016-11-10

4.  Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

Authors:  A Verloes
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

5.  An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Authors:  Kimia Kahrizi; Hossein Najmabadi; Roxana Kariminejad; Payman Jamali; Mahdi Malekpour; Masoud Garshasbi; Hans Hilger Ropers; Andreas Walter Kuss; Andreas Tzschach
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

Review 6.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

7.  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

8.  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

Review 9.  Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

Authors:  R Pallotta
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

10.  Ocular phenotype of Fbn2-null mice.

Authors:  Yanrong Shi; Yidong Tu; Robert P Mecham; Steven Bassnett
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-11-01       Impact factor: 4.799
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