[Genetics of congenital hand malformations].
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.
Département de génétique médicale, hôpital d'enfants de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 05, France. nicole.philip@ap-hm.fr
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Philip-Sarles
D002648:Child; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D055614:Genetic Phenomena; D014644:Genetic Variation; D006228:Hand Deformities, Congenital / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D018878:Limb Buds / Q000196:embryology; D009154:Mutation; D017689:Polydactyly / Q000235:genetics; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D014157:Transcription Factors
Malformations congénitales de la main et génétique.