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.
|Journal||Drug Invention Today|
|Publication status||Published - Apr 2020|