OPEN ACCESS Dysmorphology (English Edition)
Description
Congenital anomalies occupy a field where developmental biology meets clinical interpretation. This volume introduces dysmorphology as both a diagnostic science and a reflective practice grounded in observation and reasoning. It traces the discipline’s evolution from descriptive morphology to its integration with cytogenetics and molecular genetics, clarifying how chromosomal, monogenic, and multifactorial factors shape abnormal development. Emphasis is placed on clinical method—anamnesis, examination, and pedigree analysis—as the foundation for diagnostic hypotheses and judicious genetic testing. Contemporary frameworks such as standardized phenotypic nomenclature and genomic sequencing are examined alongside their ethical and conceptual implications.
Chapters
How to cite
Contributors and affiliations
All contributors are shown here. Affiliations are grouped when they are available in the book metadata.
Bibliographic information
- Book title
- Dysmorphology (English Edition)
- DOI
- https://doi.org/10.62486/978-9915-9875-7-6
- Publisher
- South American Publishing
- Imprint
- South American Publishing
- ISBN
- 978-9915-9875-7-6 (eBook, English)
- Edition number
- 1
- Publication type
- Book
- Subject area
- Health & Medicine
- License
- Creative Commons Attribution 4.0 International
- Copyright
- © 2024 South American Publishing
Planning a scholarly book?
Explore the editorial policies or send an initial proposal to the South American Publishing Books team.