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Branchial arch anomalies in trisomy 18
Annales De Genetique
|January 1, 1991
Summary
Trisomy 18 can cause severe first branchial arch anomalies in newborns and fetuses, including microtia and hemifacial microsomia. These cases highlight the wide range of physical differences associated with trisomy 18.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with multiple congenital anomalies.
- First branchial arch (FBA) anomalies affect facial development.
- Understanding the phenotypic spectrum of trisomy 18 is crucial for diagnosis and management.
Observation:
- The study presents three cases involving fetuses or newborns diagnosed with trisomy 18.
- Two cases exhibited extreme microtia (underdeveloped ear) with an imperforate external meatus (blocked ear canal).
- A third case presented with hemifacial microsomia (underdevelopment of one side of the face).
Findings:
- All reported cases demonstrated severe malformations of the first branchial arch.
- The observed anomalies included both ear and facial developmental defects.
- These findings underscore the significant impact of trisomy 18 on craniofacial development.
Implications:
- The cases illustrate the extensive phenotypic variability within trisomy 18, particularly concerning FBA derivatives.
- Recognizing these severe craniofacial anomalies is important for prenatal diagnosis and genetic counseling.
- Further research into the genetic and developmental mechanisms underlying trisomy 18 phenotypes is warranted.