Mother's AI query prompts a rare-disease diagnosis in a 22-month-old

An unnamed AI app suggested a skull abnormality, prompting genetic evaluation of a 22-month-old. The authors attribute the app to Med-Gemini-3D, but its model is unverified.

AI system

System

Smartphone application described by the authors as powered by Med-Gemini-3D

Model

Med-Gemini-3D, as identified by the case-report authors.

Editor’s note. The abstract names Med-Gemini-3D but does not identify the smartphone application or provide evidence of its model integration (reference 1).

Release

Exact release not established.

Application developer

Google (Med-Gemini-3D)

Role

The application suggested a possible diagnosis from a reconstructed CT image, according to the case-report authors.

Configuration

The mother used a smartphone application to analyze a three-dimensional reconstruction from her child’s CT scan.

Inputs and outputs

The application analyzed an image reconstructed from a CT scan and suggested enlarged parietal foramina.

Autonomy

Not assessed

Workflow

A caregiver submitting a 3D-CT image to a multimodal model. A rare finding unrecognized by the treating physician. Follow-up genetic evaluation.

Human oversight

Not assessed

Relation to AI

The authors attribute the diagnostic suggestion to a smartphone application they say is powered by Med-Gemini-3D. The abstract does not identify the app. So the AI role rests on the authors' description alone. Authors are not affiliated with the developer.

AI contribution

The authors attribute the diagnostic suggestion to a smartphone application they say is powered by Med-Gemini-3D. The abstract does not identify the app. So the AI role rests on the authors' description alone. Authors are not affiliated with the developer.

Benefits

Outcome identifiers

Not assessed

Benefit

An unnamed AI app suggested a skull abnormality, prompting genetic evaluation of a 22-month-old. The authors attribute the app to Med-Gemini-3D, but its model is unverified.

Category

Improved Physical Health

Status

Not assessed

Beneficiary groups

People. Organizations. Society.

Beneficiaries

Not assessed

Reach

Not assessed

Distribution and access

Not assessed

Duration

Not assessed

Expected?

Yes

Costs and harms

Not assessed

Measurement

Studies

Not assessed

Study design

Not assessed

Measurement

Not assessed

Setting and sample

Not assessed

Measures

Not assessed

Comparison

the treating physician's initial reading of the CT scan

Results

Reference: symmetric ossification defects adjacent to the sagittal suture that were not initially recognized by the treating physician. Result: suggested a diagnosis of "Catlin mark skull," a historical term for Enlarged Parietal Foramina (EPF).

Additional value from AI

Not assessed

Limitations

Not assessed

Denominators

Not assessed

Materials for replication

Not assessed

Money

Kind of value

Not assessed

Amount

Not assessed

Currency and prices

Not assessed

Period and unit

Not assessed

Realization

Not assessed

Recipients and payers

Not assessed

Gross or net

Not assessed

Included costs

Not assessed

Comparison

Not assessed

Method

Not assessed

Return and payback

Not assessed

People and places

Participants

Developer: Google (Med-Gemini-3D). Operator: The patient's mother (consumer use).

Jurisdictions

Benefit: United States (authors at Garnet Health Medical Center, Middletown, New York). Developer: United States.

Ownership and control

Not assessed

Dependencies

Not assessed

Cross-border connections

Not assessed

Geopolitical implications

Not assessed

Follow-up

Conditions for replication

Access to a model able to interpret 3D CT images. Clinicians act on a consumer-obtained suggestion.

Replication attempts

Not assessed

Later findings

No later correspondence, correction, or follow-up to the case report of 16 January 2026 is established.

Availability

Not assessed

Institutional decision

Not assessed

Grounds

Not assessed

Action and result

Not assessed

Success criterion

Not assessed

Evidence

Source numbers

AIBD-0267-source-0001

Citations

Numbered references below.

Language

Not assessed

Source relationships

Independent

Original evidence

The authors describe the clinical episode in the available account. The full report and any supplements were not inspected, and the app’s identity remains unconfirmed. [1]

Access and versions

Not assessed

Supported findings

Not assessed

Evidence strength

Not assessed

Missing evidence

Not assessed

Grades

Assessed benefits

People. Organizations. Society.

Depth

People: 3. Organizations: Not assessed. Society: Not assessed.

Reasons

People: Diagnosis of enlarged parietal foramina, identification of a CDC42BPB variant, and earlier therapeutic interventions for the child. Organizations: No organizational outcome reported. Society: Single case.

Observed or intended

Not assessed

Rubric

Not assessed

Assessor and date

Not assessed

Alternative assessments

Not assessed

Fill

Independently studied

Entry details

Kind

Not assessed

Field

Health; rare-disease diagnosis. Children with rare craniofacial anomalies.

Purpose

Consumer use of a CT-interpreting model to obtain a diagnosis for an unexplained skull finding

Dates

Date basis unassessed: 2026 (precision unassessed). Updated: 24 October 2026.

Stage

Not assessed

Version

SHA-256: 21fd7dda66f3…

References

Other identifiers

Not assessed

Category mappings

Not assessed

Brief

Not assessed

Revisions

7 revisions. Latest: 24 October 2026.

Sources

  1. Case report Independent author

    Hajebian HH, Friel MT. AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull. Journal of Craniofacial Surgery 37, nos. 3–4 (2026): 910–913. Published online January 16, 2026. doi:10.1097/SCS.0000000000012413. Abstract.

    Original clinical case report by clinicians unaffiliated with the attributed AI developer. Only the abstract and bibliographic metadata were inspected in this review. A case report is not a controlled evaluation or independent replication.