[Genetic background of isolated forms of congenital malformations of the hand].
Congenital hand malformations comprise a clinically and etiologically heterogeneous group of developmental anomalies. They may occur as an isolated trait or be a part of a syndrome. In recent years, enormous progress in revealing the molecular background of congenital hand anomalies has been made. It proved helpful for better understanding of function of the genes responsible for embroynic limb development in humans. This review presents a classification of hand malformations, which takes into account not only differences of anatomic and morphological origin, but also distinct genetic background. Since there is an abundance of syndromes with congenital hand anomalies, the paper is focused mainly on the non-syndromic hand malformations and their genetic etiology.
Jamsheer
Aleksander
A
Katedra i Zakład Genetyki Medycznej Uniwersytet Medyczny im. K. Marcinkowskiego w Poznaniu, 60-352 Poznań, ul. Grunwaldzka 55 paw. 15, Poland. jamsheer@wp.pl
D002869:Chromosome Aberrations / Q000145:classification; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017689:Polydactyly / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D013576:Syndactyly / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome