V Berdón-Zapata, M Granillo-Alvarez, M Valdés-Flores, J E García-Ortiz, S Kofman-Alfaro, J C Zenteno
Ectrodactyly is a congenital limb malformation that involves a central reduction defect of the hands and/or feet which is frequently associated with other phenotypic abnormalities. The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the tumor suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature ectrodactyly: ectrodactyly, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth syndrome (ADULT)...
January 2004: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society