Last Updated:2025/12/01

Although extremely rare, Berk-Tabatznik syndrome should be considered when a child presents with short stature, congenital optic atrophy, and brachytelephalangy.

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Although extremely rare, Berk-Tabatznik syndrome should be considered when a child presents with short stature, congenital optic atrophy, and brachytelephalangy.

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極めて稀ではあるが、低身長、先天性視神経萎縮、ブラキテレファランジー(短指節骨)を特徴とする原因不明の疾患は、これらの所見を示す小児では念頭に置くべきである。

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