Abstract
This case report describes a full-term baby girl with a CHARGE syndrome (CS) born to a 21-year-old mother at 38 weeks
of gestation with consanguineous marriage. The baby had birth weight 2.86 kg and length 47.5 cm. She was diagnosed
with bilateral choanal atresia, tetralogy of Fallot, coloboma of the iris, and ears abnormalities. Heart defects and breathing
problems are usually threatening the life of babies with CS. CS was diagnosed clinically with the presence of the four major
criteria (coloboma, choanal atresia, characteristic ears, and cranial nerve [CN] dysfunctions). Various imaging investigations
contributed to the detection of the different internal ear and CN anomalies. Besides, this case summarizes the importance of
a multidisciplinary approach to reflect on the patients’ health outcomes.
of gestation with consanguineous marriage. The baby had birth weight 2.86 kg and length 47.5 cm. She was diagnosed
with bilateral choanal atresia, tetralogy of Fallot, coloboma of the iris, and ears abnormalities. Heart defects and breathing
problems are usually threatening the life of babies with CS. CS was diagnosed clinically with the presence of the four major
criteria (coloboma, choanal atresia, characteristic ears, and cranial nerve [CN] dysfunctions). Various imaging investigations
contributed to the detection of the different internal ear and CN anomalies. Besides, this case summarizes the importance of
a multidisciplinary approach to reflect on the patients’ health outcomes.
| Original language | English |
|---|---|
| Journal | Drug Invention Today |
| Publication status | Published - Apr 2020 |
Keywords
- Bilateral choanal atresia, Bilateral microcornea, CHARGE syndrome, Coloboma