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CHARGE syndrome — RACP Paediatrics MCQ

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ModerateGeneticsCHARGE syndromeRACP Paediatrics

A neonate has coloboma, choanal atresia, congenital heart disease (tetralogy of Fallot), growth restriction, and ear abnormalities. Cranial nerves are abnormal with facial palsy. What is the most likely diagnosis?

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Correct answer: C — CHARGE syndrome

CHARGE syndrome (CHD7 gene mutation) is defined by the mnemonic: Coloboma, Heart defects, Atresia choanae, Retardation of growth/development, Genital abnormalities, and Ear anomalies. Cranial nerve abnormalities are also common. Diagnosis is clinical plus genetic confirmation. Management requires a multidisciplinary approach.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023