Related Experiment Videos
Trisomy 18 in a patient with CHARGE association
1Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|January 1, 1995
Summary
CHARGE association, a condition with multiple congenital anomalies, can be challenging to diagnose. This case highlights trisomy 18 mimicking CHARGE, emphasizing the need for rapid chromosomal studies in atypical presentations.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- CHARGE association is a complex syndrome of congenital anomalies with unknown etiology, typically sporadic.
- Key features include colobomata, heart defects, choanal atresia, growth/developmental retardation, genital hypoplasia, and ear abnormalities.
Observation:
- A neonate presented with features suggestive of CHARGE association.
- The neonate also exhibited clenched hands and short palpebral fissures, which are atypical for CHARGE.
- Diagnostic challenges arose due to the overlapping and unusual combination of anomalies.
Findings:
- Chromosomal analysis revealed trisomy 18 in the neonate.
- This finding indicated that the patient had trisomy 18, not a typical CHARGE association.
Implications:
- This case underscores the importance of considering chromosomal abnormalities, such as trisomy 18, in neonates with apparent CHARGE association.
- Prompt chromosomal studies are crucial for accurate diagnosis, especially when atypical features are present.
- Early and correct diagnosis facilitates appropriate management and genetic counseling.