Literature DB >> 7531942

Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form?

O Gabrielli1, A Ficcadenti, G Fabrizzi, P Perri, A Mercuri, G V Coppa, P Giorgi.   

Abstract

We report on a male infant with oral, facial, digital, and skeletal anomalies in association with severe psychomotor delay. This may represent a new oral-facial-digital syndrome.

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Mesh：

Year:  1994        PMID： 7531942     DOI： 10.1002/ajmg.1320530315

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


  4 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.  Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Authors:  Lina Basel-Vanagaite; Rüstem Yilmaz; Sha Tang; Miriam S Reuter; Nils Rahner; Dorothy K Grange; Megan Mortenson; Patrick Koty; Heather Feenstra; Kelly D Farwell Gonzalez; Heinrich Sticht; Nathalie Boddaert; Julie Désir; Kwame Anyane-Yeboa; Christiane Zweier; André Reis; Christian Kubisch; Tamison Jewett; Wenqi Zeng; Guntram Borck
Journal:  Hum Genet       Date:  2014-03-11       Impact factor: 4.132

3.  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 4.  Update on oral-facial-digital syndromes (OFDS).

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

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