Williams Syndrome — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicWilliams SyndromeRACP Paediatrics

A 4-year-old boy presents with short stature, elfin facies, supravalvular aortic stenosis, and a friendly, overly sociable personality. He has an IQ of 65. What is the most likely diagnosis?

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Correct answer: E — Williams syndrome

Williams syndrome is caused by a microdeletion at 7q11.23 (includes the elastin gene). Features include elfin facies, supravalvular aortic stenosis (and peripheral pulmonary stenosis), intellectual disability with a characteristic personality (overly friendly, talkative), infantile hypercalcaemia, and stellate iris pattern. Diagnosis is confirmed by FISH or microarray for the 7q11.23 deletion.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics