Literature DB >> 9546832

Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

V Morán-Barroso1, M Valdés Flores, R García-Cavazos, S Kofman-Alfaro, D Saavedra-Ontiveros.   

Abstract

We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).

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Mesh：

Year:  1998        PMID： 9546832

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

1.  Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Authors:  C Thauvin-Robinet; M Cossée; V Cormier-Daire; L Van Maldergem; A Toutain; Y Alembik; E Bieth; V Layet; P Parent; A David; A Goldenberg; G Mortier; D Héron; P Sagot; A M Bouvier; F Huet; V Cusin; A Donzel; D Devys; J R Teyssier; L Faivre
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

2.  Cilia-dependent GLI processing in neural crest cells is required for tongue development.

Authors:  Grethel Millington; Kelsey H Elliott; Ya-Ting Chang; Ching-Fang Chang; Andrzej Dlugosz; Samantha A Brugmann
Journal:  Dev Biol       Date:  2017-03-09       Impact factor: 3.582

Review 3.  Craniofacial ciliopathies: A new classification for craniofacial disorders.

Authors:  Samantha A Brugmann; Dwight R Cordero; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

4.  The many faces of oral-facial-digital syndrome.

Authors:  E Sukarova-Angelovska; N Angelkova; S Palcevska-Kocevska; M Kocova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

Review 5.  Update on oral-facial-digital syndromes (OFDS).

Authors:  Brunella Franco; Christel Thauvin-Robinet
Journal:  Cilia       Date:  2016-05-02
  5 in total

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