title: Limb anomalies: Developmental and evolutionary aspects.
abstract: In this review we describe the developmental mechanisms involved in the making of a limb, by focusing on the nature and types of interactions of the molecules that play a part in the regulation of limb patterning and characterizing clinical conditions that are known to result from the abnormal function of these molecules. The latter subject is divided into sections dealing with syndromal and nonsyndromal deficiencies, polydactylies, and brachydactylies. Conditions caused by mutations in homeobox genes and fibroblast growth factors and their receptor genes are listed separately. Since the process of limb development has been conserved for more than 300 millions years, with all the necessary adaptive modifications occurring throughout evolution, we also take into consideration the evolutionary aspects of limb development in terms of genetic repertoire, molecular pathways, and morphogenetic events.
authors.affiliation: Institute of Medical Genetics, Catholic University of Rome, Largo F. Vito 1, 00168 Rome, Italy. fgurrieri@rm.unicatt.it
authors.forename: Fiorella
authors.initials: F
authors.lastname: Gurrieri
authors.forename: Klaus W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: Eugenio
authors.initials: E
authors.lastname: Sangiorgi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
mesh_terms: D000818:Animals; D005075:Biological Evolution; D005121:Extremities / Q000196:embryology*; D005801:Genes, Homeobox; D006801:Humans; D018878:Limb Buds / Q000196:embryology; D017880:Limb Deformities, Congenital / Q000196:embryology / Q000235:genetics*; D009024:Morphogenesis / Q000235:genetics*; D014714:Vertebrates