Literature DB >> 3144982

Heterogeneity and variability in the oral-facial-digital syndromes.

H V Toriello1.   

Abstract

The oral-facial-digital syndromes are a heterogeneous group of conditions sharing oral, facial, and digital anomalies. Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include 1) oral-facial-digital syndrome (OFDS) I; 2) Mohr syndrome (OFDS II); 3) OFDS III; 4) OFDS with tibial anomalies (OFDS IV); 5) Thurston syndrome; 6) Varadi syndrome; and 7) Whelan syndrome. However, since differentiation between these entities is based on clinical findings, this classification should be viewed as tentative until more definitive methods are available.

Entities:  

Mesh:

Year:  1988        PMID: 3144982     DOI: 10.1002/ajmg.1320310515

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  4 in total

1.  Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

Authors:  K Nagai; M Nagao; M Nagao; S Yanai; K Minagawa; Y Takahashi; Y Takekoshi; A Ishizaka; Y Matsuzono; O Kobayashi; T Itagaki
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Orofaciodigital syndrome type III in two sibs.

Authors:  R A Smith; D Gardner-Medwin
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

3.  Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

Authors:  K H Orstavik; S E Tangsrud; T Nordshus; A M Finnanger; C Hellum; E Gjessing
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

4.  Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

Authors:  Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger
Journal:  J Clin Med Res       Date:  2015-10-23
  4 in total

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