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[Clinical picture and course of children with CHARGE association]
1Kinderneurologisches Zentrum des Landes Rheinland Pfalz, Institut für Soziale Pädiatrie, Mainz.
Insights
CHARGE-Association, a rare condition, involves choanal atresia, coloboma, and esophageal issues. Arhinencephaly was found in 3/4 autopsy cases, indicating a poor prognosis for affected children.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Malformations
Background:
- CHARGE-Association is a complex genetic disorder characterized by multiple congenital anomalies.
- Key features include Coloboma, Heart defects, Atresia choanae, Retardation of growth and development, Genital abnormalities, and Ear abnormalities.
- Esophageal malformations are recognized but less commonly emphasized.
Observation:
- This study describes four children with CHARGE-Association.
- All presented with primary abnormalities of choanal atresia and/or coloboma.
- Esophageal atresia and/or fistulas were present in all four cases.
Findings:
- Autopsy revealed arhinencephaly in three of the four children.
- Arhinencephaly is an exceptionally rare finding in CHARGE-Association.
- The combination of these malformations suggests a severe phenotype.
Implications:
- The presence of arhinencephaly may indicate a particularly severe form of CHARGE-Association.
- These findings highlight the critical need for early diagnosis and comprehensive management.
- Understanding the spectrum of malformations is crucial for predicting prognosis in affected infants.
Abstract:
Four children are described who presented malformations according to CHARGE-Association. The primary abnormalities were choanal atresia and/or Coloboma. All four cases exhibited esophageal malformations: atresia and/or fistulas. At autopsy, three children showed arhinencephaly which is rarely observed in patients with CHARGE-Association. Patients with the main features of CHARGE-Association have a very poor prognosis depending on the severity of the malformations.