Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context PDF

Chapter 1 – Topics and purpose of this book
1.1. Introduction
­1.2. The ontology, phylogeny and clinical importance of muscle variation seen in the light of the myology of human aneuploid syndromes
1.3. Table 1 – Examples of muscle variations and their clinical correlations in karyotipically normal humans
1.4. Trisomies 18, 13, and 21, cyclopia, and lack of comparative myological studies
1.5. Order versus randomness in evolution and birth defects
1.6. Serial homology, integration, forelimbs and hindlimbs
1.7. Developmental constraints, muscle attachments, facial muscles, and the present study

Chapter 2 – The musculoskeletal system of a 28-week human Trisomy 18 cyclopia fetus
2.1. Introduction
2.2. Back, shoulder and arm
2.3. Left forearm/hand
2.4. Right forearm/hand
2.5. Legs and feet
2.6. Neck and head, including extraocular muscles
2.7. Bones of the cranium
2.8. Table 2 – Muscular anomalies in 28-week Trisomy 18 cyclopic fetus compared with documented cases of Trisomies 18, 13, and 21

Chapter 3 – Comparative anatomy of muscular anomalies of Trisomies 13, 18, and 21
3.1. Introduction
3.2. Head and neck
3.3. Back and pectoral region
3.4. Upper limb
3.5. Lower Limb
3.6. Table 3 – Muscular anomalies reported by other authors in Trisomies 18, 13, and 21

Chapter 4 – Cyclopia, trisomic anomalies, and order versus chaos in development and evolution
4.1. Introduction
4.2. Cyclopia and eye musculature
4.3. Development, trisomy, cyclopia, and muscles
4.4. Integration and limb serial homology
4.5. Facial muscles and topological position versus developmental anlage in the cyclopic head
4.6. “Logic of monsters”, homeostasis, and order versus chaos in development and evolution

Chapter 5 – Digits and muscles: topology-directed muscle attachment
5.1. Introduction
5.2. Tetrapod limbs, digits, muscles, and homeotic transformations
5.3. Birth defects, limb muscles, non-pentadactyly, and implications for human medicine

Chapter 6 – Evolutionary mechanisms and mouse models for Down syndrome
6.1. Introduction
6.2. Evolutionary reversions, Dollo’s law, and human evolution
6.3. Atavisms, birth defects, “recapitulation”, adaptive plasticity and developmental constraints
6.4. 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
Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context PDF Ebook

Christopher M. Smith received his M.A. from the Johns Hopkins Univ. School of Medicine in Medical and Biological Illustration and is currently at Howard University College of Medicine. He combines biomedical research with traditional and digital visualization techniques, and received several awards (e.g. Assoc. Medical Illustrators, Vesalius Trust), including the Vesalius award for the best young medical illustrator and researcher within North America (US and Canada). His current research focuses on the evolutionary and developmental anatomy of humans with and without birth defects.

Rui Diogo is a multi-awarded (American Assoc. Anatomists, Anatomical Soc. Great Britain & Ireland) Assistant Professor at the Howard Univ. College of Medicine and a Resource Faculty at the Center for the Advanced Study of Hominid Paleobiology of George Washington Univ. (US). He is the author/co-author of numerous publications, and co-editor of the books Catfishes and Gonorynchiformes and ostariophysan interrelationships. He is the sole author or first author of several monographs, including five atlases of baby gorillas and adult gorillas, chimpanzees, hylobatids and orangutans and the books Morphological evolution, aptations, homoplasies, constraints and evolutionary trends, The origin of higher clades – osteology, myology, phylogeny and evolution of bony fishes and the rise of tetrapods, Muscles of vertebrates, and Comparative anatomy and phylogeny of primate muscles and human evolution.

Julia Molnar is Visiting Assistant Professor of Comparative Anatomy at Coastal Carolina University. Her research focuses on evolutionary changes in musculoskeletal anatomy and their effects on function, particularly locomotion. She has published on the evolution of locomotion in early tetrapods and crocodylomorphs and the use of virtual models in paleontology, and she is also an awarded medical illustrator.