The Artificial Intelligence-Assisted Diagnosis of Skeletal Dysplasias in Pediatric Patients: A Comparative Benchmark Study of Large Language Models and a Clinical Expert Group.

Genes (Basel) · 2025 · PMC12294814 · PMID 40725418

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Interestingly, macrocephaly, as a relatively common phenotypic feature in certain skeletal dysplasias, also showed a trend toward influencing the physician diagnostic accuracy, while having minimal effects in the AI models.

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