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Time and natural history: the changing face
1Genetics Center of Southwest Biomedical Research Institute, Scottsdale, Arizona.
Journal of Craniofacial Genetics and Developmental Biology
|January 1, 1989
Summary
Phenotypic evolution in dysmorphology, particularly in Noonan syndrome, is increasingly recognized. Understanding these age-related changes enhances diagnostic potential for genetic syndromes.
Area of Science:
- Anthropology
- Genetics
- Dysmorphology
Background:
- Craniofacial complex changes are well-documented in anthropological literature since the late 19th century.
- Awareness of phenotypic evolution has been recently incorporated into dysmorphology and syndrome diagnosis.
- Anthropological data uses serial measurements, while dysmorphology historically relied on gestalt appreciation.
Purpose of the Study:
- To highlight the importance of phenotypic evolution in dysmorphology.
- To emphasize the application of this understanding in syndrome diagnosis.
- To explore age-related phenotypic changes, using Noonan syndrome as a primary example.
Main Methods:
- Review of anthropological literature on craniofacial complex changes.
- Analysis of phenotypic changes over time in Noonan syndrome.
- Comparison of measurement-based vs. gestalt-based approaches to phenotypic assessment.
Main Results:
- Noonan syndrome exhibits marked phenotype changes from newborn to adulthood.
- This age-related variation is likely present in many other dysmorphic syndromes.
- Anthropological insights into craniofacial growth inform dysmorphology.
Conclusions:
- Increased understanding of phenotype evolution significantly improves diagnostic capabilities in dysmorphology.
- Recognizing age-dependent phenotypic shifts is crucial for accurate syndrome identification.
- Noonan syndrome serves as a key model for studying dynamic phenotypic changes in genetic disorders.