Congenital abnormalities of body patterning: embryology revisited

• Published in: The Lancet (British edition) Vol. 362; no. 9384; pp. 651 - 662
• Main Author: Goodman, Frances R
• Format: Journal Article
• Language: English
• Published: London Elsevier Ltd 23.08.2003; Lancet; Elsevier Limited
• Subjects: Abnormalities; Anatomy & physiology; Biological and medical sciences; Body Patterning - genetics; Body Patterning - physiology; Cell growth; Congenital Abnormalities - embryology; Congenital Abnormalities - genetics; Congenital Abnormalities - physiopathology; Congenital defects; Congenital diseases; Defects; DiGeorge Syndrome - embryology; DiGeorge Syndrome - genetics; DiGeorge Syndrome - physiopathology; DiGeorge's syndrome; Embryology; Forebrain; Genes; Genes, Homeobox - genetics; Genes, Homeobox - physiology; Genetic engineering; Genomes; Holoprosencephaly; Holoprosencephaly - embryology; Holoprosencephaly - genetics; Holoprosencephaly - physiopathology; Humans; Illnesses; Insects; Invertebrates; Learning disabilities; Leukemia; Malformations of the nervous system; Medical sciences; Molecular biology; Molecular chains; Mutation; Mutation - genetics; Neurology; Pattern formation; Perturbation; Pharynx; Pharynx - abnormalities; Pharynx - embryology; Pharynx - physiopathology; Phenotypic variations; Tumors; Vertebrates; United Kingdom > UK; Human; Immunopathology; Embryonic development; Nervous system diseases; Patterning; DiGeorge syndrome; Genetic determinism; Pharynx; Cerebral disorder; Genetic disease; Prosencephalon; Embryology; Phenotype; Parathyroid diseases; Malformation; Central nervous system disease; Body
• ISSN: 0140-6736; 1474-547X; 1474-547X
• DOI: 10.1016/S0140-6736(03)14187-6

Many of the developmental mechanisms and molecular pathways that underlie fundamental features of body patterning are shared by all vertebrates, and some have even been conserved across evolution from invertebrates to vertebrates. Defects in such processes are a common cause of congenital malformation syndromes, and rapid progress is being made in elucidating their embryological and genetic basis. Here, I focus on three examples, each of which has been the subject of recent advances, and which together illustrate many of the most interesting and important aspects of these disorders. The first example is the development of the pharyngeal apparatus and its perturbation in DiGeorge's syndrome; the second is the induction and differentiation of the forebrain and its perturbation in holoprosencephaly; and the third is the role played by the human HOX genes in congenital malformations.