Note: Intro -- Embryos, Genes and Birth Defects -- Contents -- Preface to the First Edition -- Preface to the Second Edition -- Contributors -- 1 The Relationship between Genotype and Phenotype:Some Basic Concepts -- Introduction -- The relationship between genotype and phenotype -- The role of 'model' systems -- The changing concept of homology -- 2 Uses of Databases in Dysmorphology -- What is a syndrome? -- Some of these problems are addressed by dysmorphology databases -- Where databases do not help -- Dysmorphology databases -- How databases work -- 3 Human Cytogenetics -- Introduction -- Population cytogenetics -- Structural anomalies -- The genesis of chromosome abnormalities -- Embryo survival -- The cause of high levels of chromosome abnormality in human embryos -- Relative parental risks -- age, translocations, inversions, gonadal and germinal mosaics -- 4 Identification and Analysis of Genes Involved in Congenital Malformation Syndromes -- Gene identification -- Biological analysis of genes implicated in birth defect syndromes -- Animal models -- Why study rare human birth defect syndromes? -- 5 Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development -- Introduction -- Transgenic mice -- Genetic manipulation using gene targeting in ES cells -- Outlook and future developments -- 6 Chemical Teratogens: Hazards, Tools and Clues -- Introduction -- Teratogens and human malformations -- General strategy in chemical teratogenesis -- Valproic acid -- Gene-teratogen interaction -- Teratogens and phenocopies -- Teratogens as manipulative tools -- Teratogens as clues -- Final comments -- 7 The Limbs -- Developmental anatomy of the human limb -- Main classes of limb defects -- Contemporary studies on mechanisms of limb development -- Limb regeneration. , How, when and where experimental studies elucidate abnormal development -- Agenda for the future -- 8 Brain and Spinal Cord -- Introduction -- Overview of nervous system development -- Defects of CNS development: towards a genetic and developmental understanding -- Agenda for the future -- 9 Birth Defects Affecting the Eye -- The eye -- Development of the eye -- Congenital eye defects and paediatric blindness -- Gene mutations underlying congenital eye defects -- Cellular and molecular mechanisms affecting eye development and how they elucidate the causes of abnormal development -- Agenda for the future -- 10 The Ear -- Introduction -- Development of the outer and middle ear -- Development of the inner ear -- Main classes of ear defects -- Mechanisms involved in development of the outer and middle ear -- Mechanisms underlying inner ear development -- Mechanisms underlying development of inner ear sensory epithelia -- Mechanisms involved in endolymph homeostasis -- The future -- 11 Development of the Enteric Nervous System in Relation to Hirschsprung's Disease -- Introduction -- Anatomy and function of the ENS -- The best-characterized developmental defect of the ENS - Hirschsprung's disease -- Cell biology of ENS development -- Molecular biology of ENS development and Hirschsprung-like dysplasias -- HSCR: current and future treatments -- Conclusions -- 12 The Head -- Introduction -- Developmental anatomy -- Main classes of craniofacial defect -- Cellular and molecular mechanisms -- Agenda for the future -- 13 The Heart -- Developmental anatomy -- Major cell populations needed for heart development -- Molecular regulation of heart development -- Cardiovascular defects -- The future -- 14 The Skin -- Introduction -- Developmental anatomy -- Main classes of skin defects -- Future perspectives -- 15 The Vertebral Column -- Introduction. , Developmental anatomy of the vertebral column -- Making the vertebral column -- Agenda for the future -- 16 The Kidney -- Introduction -- Structure and function -- Developmental anatomy of nephrogenesis -- Transcription factors -- Growth factors and their receptors -- Survival/proliferation factors -- Cell adhesion molecules -- Other molecules -- Non-genetic causes of renal malformations -- Agenda for the future -- Conclusion -- 17 The Teeth -- Developmental anatomy -- Main classes of defects -- Cellular and molecular mechanisms affecting development -- How cellular and molecular developmental mechanisms assist in elucidating the causes of abnormal development -- Agenda for the future -- Index.