Literature DB >> 8320709

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

A Verloes1.   

Abstract

Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.

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Year:  1993        PMID： 8320709      PMCID： PMC1016384          DOI： 10.1136/jmg.30.5.425

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


  6 in total

1.  Dominant inheritance of a syndrome similar to Rubinstein-Taybi.

Authors:  P Cotsirilos; J C Taylor; R Matalon
Journal:  Am J Med Genet       Date:  1987-01

2.  Iris coloboma, ptosis, hypertelorism, and mental retardation.

Authors:  B D Hall
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

3.  New syndrome of congenital ichthyosis with neurologic abnormalities.

Authors:  J Zunich; C I Kaye
Journal:  Am J Med Genet       Date:  1983-06

4.  A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction.

Authors:  R J Gardner; P S Morrison; G D Abbott
Journal:  J Pediatr       Date:  1983-04       Impact factor: 4.406

5.  Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome.

Authors:  T R Gollop
Journal:  Am J Med Genet       Date:  1981

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

Authors:  M Baraitser; R M Winter
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318
  6 in total
  3 in total

1.  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

2.  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

3.  Baraitser and Winter syndrome with growth hormone deficiency.

Authors:  Farida Chentli; Hadjer Zellagui
Journal:  J Pediatr Neurosci       Date:  2014 Sep-Dec
  3 in total

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