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Summary
A stillborn infant presented with severe congenital malformations, including cyclopia and holoprosencephaly, and was diagnosed with trisomy 18. This case highlights the necessity of chromosome studies for infants with complex birth defects.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Severe congenital malformations require thorough etiological investigation.
- Trisomy 18 is a known chromosomal abnormality associated with significant developmental issues.
Observation:
- A stillborn male infant exhibited cyclopia, holoprosencephaly, and other extracephalic malformations.
- Detailed phenotypic analysis revealed a complex pattern of developmental anomalies.
Findings:
- Karyotyping confirmed the presence of trisomy 18 (Edwards syndrome).
- The combination of facial anomalies (cyclopia, holoprosencephaly) and trisomy 18 represents a severe presentation.
Implications:
- Chromosome studies are crucial for diagnosing genetic disorders in stillborn infants with congenital anomalies.
- Understanding the genetic basis of such malformations aids in genetic counseling and future research.