Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.

Type

Journal article

Journal

J Anat

Publication Date

01/2003

Volume

202

Pages

27 - 35

Keywords

Animals, Chorionic Villi Sampling, Extremities, Female, Gene Expression Regulation, Developmental, Gestational Age, Hedgehog Proteins, Humans, Limb Deformities, Congenital, Mice, Morphogenesis, Mutation, Pregnancy, Research Design, Species Specificity, Trans-Activators