Related Experiment Videos
[CHARGE association]
S Ben Becher1, S Ganouni, M Cheour
1Service de pédiatrie, hôpital d'Enfants, Tunisie.
Insights
CHARGE association is a rare condition with multiple anomalies. Early recognition is crucial for managing potential life-threatening respiratory and feeding issues in infants.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Clinical Dysmorphology
Background:
- CHARGE association is a complex genetic disorder characterized by a wide spectrum of congenital anomalies.
- Key features include coloboma, heart defects, choanal atresia, developmental delays, genital abnormalities, and ear malformations.
Observation:
- A 4.5-month-old male infant presented with microphthalmia, hypotonia, and specific dysmorphic features.
- Clinical examination revealed low-set ears, micrognathia, coloboma, left choanal atresia, and genital hypoplasia.
- The infant's growth parameters were below normal for weight and height, with a larger head circumference.
Findings:
- The infant exhibited several hallmark features consistent with CHARGE association.
- While the infant had multiple anomalies, his heart was noted to be normal during examination.
- The constellation of findings underscores the phenotypic variability within CHARGE association.
Implications:
- Prompt diagnosis of CHARGE association is vital for timely intervention and management.
- Early identification allows for proactive management of potential complications such as respiratory distress and feeding difficulties.
- Effective management can significantly improve outcomes and prevent life-threatening situations in affected infants.
Background:
The spectrum of CHARGE association includes coloboma, heart disease, choanal atresia, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism and ear anomalies and/or deafness.
Case Report:
A 4 1/2 month-old boy was admitted suffering from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal.
Conclusion:
The CHARGE association must be recognized early since it may be complicated by respiratory and feeding difficulties which can be lethal.