Literature DB >> 10199905

A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome.

W Y Chung1, L P Chung.   

Abstract

We report a child with clinical and radiological manifestations characteristic of both V'aradi syndrome (oral-facial-digital syndrome type VI) and Thurston syndrome (oral-facial-digital syndrome type V). The findings have not been reported previously, and we believe that it represents a new variant.

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Year:  1999        PMID: 10199905     DOI: 10.1007/s002470050586

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  2 in total

1.  Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Authors:  Andrea Poretti; Giuseppina Vitiello; Raoul C M Hennekam; Filippo Arrigoni; Enrico Bertini; Renato Borgatti; Francesco Brancati; Stefano D'Arrigo; Francesca Faravelli; Lucio Giordano; Thierry A G M Huisman; Miriam Iannicelli; Gerhard Kluger; Marten Kyllerman; Magnus Landgren; Melissa M Lees; Lorenzo Pinelli; Romina Romaniello; Ianina Scheer; Christoph E Schwarz; Ronen Spiegel; Daniel Tibussek; Enza Maria Valente; Eugen Boltshauser
Journal:  Orphanet J Rare Dis       Date:  2012-01-11       Impact factor: 4.123

Review 2.  Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Authors:  Ange-Line Bruel; Brunella Franco; Yannis Duffourd; Julien Thevenon; Laurence Jego; Estelle Lopez; Jean-François Deleuze; Diane Doummar; Rachel H Giles; Colin A Johnson; Martijn A Huynen; Véronique Chevrier; Lydie Burglen; Manuela Morleo; Isabelle Desguerres; Geneviève Pierquin; Bérénice Doray; Brigitte Gilbert-Dussardier; Bruno Reversade; Elisabeth Steichen-Gersdorf; Clarisse Baumann; Inusha Panigrahi; Anne Fargeot-Espaliat; Anne Dieux; Albert David; Alice Goldenberg; Ernie Bongers; Dominique Gaillard; Jesús Argente; Bernard Aral; Nadège Gigot; Judith St-Onge; Daniel Birnbaum; Shubha R Phadke; Valérie Cormier-Daire; Thibaut Eguether; Gregory J Pazour; Vicente Herranz-Pérez; Jaclyn S Goldstein; Laurent Pasquier; Philippe Loget; Sophie Saunier; André Mégarbané; Olivier Rosnet; Michel R Leroux; John B Wallingford; Oliver E Blacque; Maxence V Nachury; Tania Attie-Bitach; Jean-Baptiste Rivière; Laurence Faivre; Christel Thauvin-Robinet
Journal:  J Med Genet       Date:  2017-03-13       Impact factor: 6.318

  2 in total

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