[Genetics of congenital hand malformations]. / Malformations congénitales de la main et génétique.
Chir Main
; 27 Suppl 1: S7-20, 2008 Dec.
Article
in Fr
| MEDLINE
| ID: mdl-18838287
ABSTRACT
Most congenital defects of the hand have a genetic basis, mostly monogenic, especially when they are bilateral. The recent progresses of molecular genetics together with the comprehension of the molecular mechanisms of development have led to identify a growing number of genes whose mutations are implicated in the genesis of hand malformations. When isolated, the mode of inheritance is often autosomal dominant with intrafamilial variability. The hand malformation may be the first manifestation of a more complex syndrome, the other symptoms appearing later in life. Children must be referred to a pediatric and/or genetic clinic in order to perform complementary investigations.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hand Deformities, Congenital
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Humans
/
Newborn
Language:
Fr
Journal:
Chir Main
Year:
2008
Document type:
Article
Affiliation country: