Literature DB >> 8135292

Cerebro-reno-digital syndrome in two sibs.

M Piantanida1, A Tiberti, A Plebani, P Martelli, C Danesino.   

Abstract

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.

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Year:  1993        PMID： 8135292     DOI： 10.1002/ajmg.1320470325

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


  1 in total

1.  Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Authors:  Houda Karmous-Benailly; Jelena Martinovic; Marie-Claire Gubler; Yoann Sirot; Laure Clech; Catherine Ozilou; Joëlle Auge; Nora Brahimi; Heather Etchevers; Eric Detrait; Chantal Esculpavit; Sophie Audollent; Géraldine Goudefroye; Marie Gonzales; Julia Tantau; Philippe Loget; Madeleine Joubert; Dominique Gaillard; Corinne Jeanne-Pasquier; Anne-Lise Delezoide; Marie-Odile Peter; Ghislaine Plessis; Brigitte Simon-Bouy; Hélène Dollfus; Martine Le Merrer; Arnold Munnich; Férechté Encha-Razavi; Michel Vekemans; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2005-01-21       Impact factor: 11.025
  1 in total

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