Last Updated:2025/11/21

The pediatrician recognized gargoylism during the examination and recommended genetic testing for mucopolysaccharidosis.

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The pediatrician recognized gargoylism during the examination and recommended genetic testing for mucopolysaccharidosis.

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小児科医は診察中に、ハーラー症候群やハンター症候群に見られる、歯肉の肥厚や上向きの鼻などの異形性顔貌を認め、ムコ多糖症の遺伝子検査を勧めた。

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