Literature DB >> 12702162

Cerebro-oculo-facial-lymphatic syndrome.

J M Milunsky1, D M Capin.   

Abstract

We describe a boy whose prime features are severe-to-profound mental retardation, intractable complex seizures, lissencephaly, facial dysmorphism, and lymphatic abnormalities. To our knowledge, this is the fourth reported case of this syndrome. We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses.

Entities:  

Mesh:

Year:  2003        PMID: 12702162     DOI: 10.1034/j.1399-0004.2003.00052.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 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

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.