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January 18, 2026Journal of Craniofacial Surgery

AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull

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Authors

HHH. Harvak HajebianMFMichael T. Friel

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Overview

A case report demonstrates AI's potential to improve diagnosis of rare craniofacial conditions, suggesting valuable implications.

Key Points

  • This research aims to explore the application of AI in diagnosing rare craniofacial conditions using CT imaging.
  • Described a clinical case of a 22-month-old girl with skull defects and developmental delay.
  • Utilized Med-Gemini-3D AI platform for analyzing 3D-CT scans.
  • Conducted genetic evaluation for identifying associated variants.
  • AI-assisted analysis suggested the diagnosis of Catlin mark skull, leading to genetic evaluation.
  • Identified a CDC42BPB variant linked to Chilton-Okur-Chung neurodevelopmental syndrome.
  • Facilitated earlier interventions and enhanced long-term management of the patient.

Cite This Study

Hajebian et al. (2026) studied this question.

synapsesocial.com/papers/696c7791eb60fb80d1395d19https://doi.org/10.1097/scs.0000000000012413
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