Muscular and skeletal anomalies in human trisomy in an evo-devo context : description of a T18 cyclopic fetus and comparison between Edwards (T18), Patau (T13) and Down (T21) syndromes using 3-D imaging and anatomical illustrations

This book focuses on human anatomy and medicine and specifically on both muscular and skeletal birth defects in humans with trisomy. Moreover, this book also deals with Down syndrome, which is one of the most studied human syndromes and, due to its high incidence and the fact that individuals with this syndrome often live until adulthood, is of special interest to the scientific and medical community. This new line of inquiry is addressed to a wide audience, including medical researchers, physicians, surgeons, medical and dental students, pathologists, and pediatricians, among others, while als Content: Topics and purpose of this book Introduction The ontology, phylogeny and clinical importance of muscle variation seen in the light of the myology of human aneuploid syndromes Table 1 - Examples of muscle variations and their clinical correlations in karyotipically normal humans Trisomies 18, 13, and 21, cyclopia, and lack of comparative myological studies Order versus randomness in evolution and birth defects Serial homology, integration, forelimbs and hindlimbs Developmental constraints, muscle attachments, facial muscles, and the present study The musculoskeletal system of a 28-week human Trisomy 18 cyclopia fetus Introduction Back, shoulder and arm Left forearm/hand Right forearm/hand Legs and feet Neck and head, including extraocular muscles Bones of the cranium Table 2 - Muscular anomalies in 28-week Trisomy 18 cyclopic fetus compared with documented cases of Trisomies 18, 13, and 21 Comparative anatomy of muscular anomalies of Trisomies 13, 18, and 21 Introduction Head and neck Back and pectoral region Upper limb Lower Limb Table 3 - Muscular anomalies reported by other authors in Trisomies 18, 13, and 21 Cyclopia, trisomic anomalies, and order versus chaos in development and evolution Introduction Cyclopia and eye musculature Development, trisomy, cyclopia, and muscles Integration and limb serial homology Facial muscles and topological position versus developmental anlage in the cyclopic head "Logic of monsters", homeostasis, and order versus chaos in development and evolution Digits and muscles: topology-directed muscle attachment Introduction Tetrapod limbs, digits, muscles, and homeotic transformations Birth defects, limb muscles, non-pentadactyly, and implications for human medicine Evolutionary theory and mouse models for Down syndrome Introduction Evolutionary reversions, Dollo's law, and human evolution Atavisms, birth defects, "recapitulation", adaptive plasticity and developmental constraints Future directions: Down syndrome, muscle dysfunction, mouse models, genetics, and apoptosis Appendix A - Dissection photographs of Trisomy 18 human cyclopia fetus Appendix B - 3-D renders of Trisomy 18 human cyclopia fetus CT scan data References Index