Oral-facial-digital syndromes: review and diagnostic guidelines.

Am J Med Genet A 2007 Dec;143A(24):3314-23

Istituto di Genetica Medica, Università Cattolica Facoltà di Medicina, Roma, Italy.

The oral-facial-digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed.

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.32032
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32032DOI Listing
December 2007
1 Read

Publication Analysis

Top Keywords

oral-facial-digital syndromes
8
digits organ
4
clinical manifestations
4
organ systems
4
face digits
4
mouth face
4
impairment invariably
4
invariably mouth
4
systems involved
4
manifestations updated
4
characteristic clinical
4
types distinguished
4
based characteristic
4
distinguished based
4
ofds types
4
types ofds
4
list types
4
defining specific
4
specific types
4
involved defining
4

References

(Supplied by CrossRef)

Adès et al.
Am J Med Genet 1994

Al-Gazali et al.
J Med Genet 1999

Badano et al.
Annu Rev Genomics Hum Genet 2006

Baraitser et al.
J Med Genet 1986

Beales et al.
Nat Genet 2007

Benzing et al.
Curr Opin Nephrol Hypertens 2006

Bisgrove et al.
Development 2006

Burn et al.
J Med Genet 1984

Camera et al.
Am J Med Genet 1994

Claussen et al.
Nord Med Tidskr 1946

Coll et al.
Nephrol Dial Transplant 1997

Similar Publications