{ "id": "AIBD-0267", "title": "Mother's AI query prompts genetic evaluation and a CDC42BPB diagnosis in a 22-month-old", "summary": "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.", "date_observed": "2026-01-16", "date_basis": "unassessed", "date_precision": "unassessed", "benefit_status": null, "source_collection": null, "source_entry": null, "account": "Hajebian and Friel (Journal of Craniofacial Surgery, published 16 January 2026) describe a 22-month-old girl with persistent bilateral parietal skull defects and global developmental delay. The full text is paywalled. Her computed tomography (CT) showed symmetric ossification defects beside the sagittal suture that the treating physician did not initially recognize. The mother used “a smartphone application powered by Med-Gemini-3D” on a 3D-CT reconstruction. It suggested “Catlin mark skull”, the historical name for enlarged parietal foramina. Genetic evaluation then identified a CDC42BPB variant associated with Chilton-Okur-Chung neurodevelopmental syndrome. The authors state that establishing the diagnosis facilitated earlier therapeutic interventions. The abstract notes that Google introduced Med-Gemini-3D in 2024 and that it is not approved for independent clinical use. A consumer app running Med-Gemini-3D cannot be verified from the abstract.", "category": "benefit created", "unexpected": false, "purpose": "Consumer use of a CT-interpreting model to obtain a diagnosis for an unexplained skull finding", "system": "Smartphone application described by the authors as powered by Med-Gemini-3D", "model_version": "Med-Gemini-3D (Google, 2024) per the authors; the app's identity is not verified", "developer": "Google (Med-Gemini-3D)", "deployer": "The patient's mother (consumer use)", "location": "United States (authors at Garnet Health Medical Center, Middletown, New York)", "domain": "Health; rare-disease diagnosis", "segment": "Children with rare craniofacial anomalies", "benefit_type": "Improved Physical Health", "taxonomy_note": null, "registry_ids": {}, "ratings": [ { "group": "personal", "depth": 3, "reason": "Diagnosis of enlarged parietal foramina, identification of a CDC42BPB variant, and earlier therapeutic interventions for the child." }, { "group": "organizational", "depth": null, "reason": "No organizational outcome reported." }, { "group": "societal", "depth": null, "reason": "Single case." } ], "ai_role": { "status": "assessed", "statement": "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." }, "evidence": [ { "kind": "case report", "citation": "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.", "title": "AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull", "url": "https://pubmed.ncbi.nlm.nih.gov/41543485/", "date": "2026-01-16", "written_by": "independent", "quote": "The patient's mother used a smartphone application powered by Med-Gemini-3D to analyze a 3D-CT reconstruction image" } ], "replication": { "produced_by": [ "A caregiver submitting a 3D-CT image to a multimodal model", "A rare finding unrecognized by the treating physician", "Follow-up genetic evaluation" ], "must_hold": [ "Access to a model able to interpret 3D CT images", "Clinicians act on a consumer-obtained suggestion" ], "echoes": [] }, "paired_incident": null, "headline": "Mother's AI query prompts a rare-disease diagnosis in a 22-month-old", "metric": null, "comparator": { "against": "the treating physician's initial reading of the CT scan", "before": "symmetric ossification defects adjacent to the sagittal suture that were not initially recognized by the treating physician", "after": "suggested a diagnosis of \"Catlin mark skull,\" a historical term for Enlarged Parietal Foramina (EPF)", "basis": "measured", "quote": "Computed tomography demonstrated symmetric ossification defects adjacent to the sagittal suture that were not initially recognized by the treating physician. The patient's mother used a smartphone application powered by Med-Gemini-3D to analyze a 3D-CT reconstruction image, which suggested a diagnosis of \"Catlin mark skull,\" a historical term for Enlarged Parietal Foramina (EPF).", "url": "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:41543485%20AND%20SRC:MED&resultType=core&format=json" }, "later": { "status": "unknown", "date": null, "note": "No later correspondence, correction, or follow-up to the case report of 16 January 2026 is established.", "quote": null, "url": null }, "value": null, "developer_country": "United States", "deployer_country": null, "unrated_because": null, "brief_notes": null, "brief": null, "revisions": [ { "date": "2026-10-20", "change": "Record drafted from the cited sources.", "source": null, "editor": "AIBD" }, { "date": "2026-10-21", "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Knowledge Discovery among the six first used.", "source": "https://trustible.ai/post/a-framework-for-measuring-the-benefits-of-ai/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Added what the benefit is measured against from the cited sources.", "source": "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:41543485%20AND%20SRC:MED&resultType=core&format=json", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Country of the developer added from the organization's own site or a registry.", "source": "https://en.wikipedia.org/wiki/Google", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Prose pass: a rating reason, account, the replication conditions, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.", "source": null, "editor": "AIBD" }, { "date": "2026-10-21", "change": "Notes about which sources could be read were reworded for readers; facts, figures and quotations unchanged.", "source": null, "editor": "AIBD" }, { "date": "2026-10-24", "change": "Qualified the unnamed app's model attribution in the title, headline, and summary. Consolidated two excerpts of one clinical report into one evidence item. The abstract supports the diagnostic sequence and earlier interventions, but it does not identify the app or substantiate its connection to Med-Gemini-3D.", "source": "https://pubmed.ncbi.nlm.nih.gov/41543485/; https://research.google/blog/advancing-medical-ai-with-med-gemini/", "editor": "AIBD" } ], "confidence": "studied", "shade": "high", "claim_status": "Independently studied", "claim_basis": "Sources: one independent case report. 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The full text is paywalled. Her computed tomography (CT) showed symmetric ossification defects beside the sagittal suture that the treating physician did not initially recognize. The mother used “a smartphone application powered by Med-Gemini-3D” on a 3D-CT reconstruction. It suggested “Catlin mark skull”, the historical name for enlarged parietal foramina. Genetic evaluation then identified a CDC42BPB variant associated with Chilton-Okur-Chung neurodevelopmental syndrome. The authors state that establishing the diagnosis facilitated earlier therapeutic interventions. The abstract notes that Google introduced Med-Gemini-3D in 2024 and that it is not approved for independent clinical use. 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The abstract supports the diagnostic sequence and earlier interventions, but it does not identify the app or substantiate its connection to Med-Gemini-3D.", "record_fields": [ "revisions" ], "source_refs": [ "AIBD-0267-source-0001" ], "reviewed_on": "2026-10-24" }, "review_state": "record_mapped", "coverage": "partial" }, "sector": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "domain": "Health; rare-disease diagnosis", "segment": "Children with rare craniofacial anomalies" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "domain", "segment" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].access_version": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "sources[].citation_locator": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "evidence": [ { "kind": "case report", "citation": "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.", "title": "AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull", "url": "https://pubmed.ncbi.nlm.nih.gov/41543485/", "date": "2026-01-16", "written_by": "independent", "quote": "The patient's mother used a smartphone application powered by Med-Gemini-3D to analyze a 3D-CT reconstruction image" } ] } }, "provenance": { "kind": "source_review", "basis": "Qualified the unnamed app's model attribution in the title, headline, and summary. Consolidated two excerpts of one clinical report into one evidence item. The abstract supports the diagnostic sequence and earlier interventions, but it does not identify the app or substantiate its connection to Med-Gemini-3D.", "record_fields": [ "evidence" ], "source_refs": [ "AIBD-0267-source-0001" ], "reviewed_on": "2026-10-24" }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].id": { "state": "value_present", "value": { "kind": "identifiers", "identifiers": [ "AIBD-0267-source-0001" ], "role": "Retained evidence items in reviewed source order" }, "provenance": { "kind": "curatorial", "basis": "Source identifiers synchronized with the retained evidence after a source-attribution correction.", "record_fields": [ "evidence" ], "source_refs": [ "AIBD-0267-source-0001" ] }, "review_state": "record_mapped", "coverage": "complete" }, "sources[].language": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "sources[].relationship": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "evidence": [ { "kind": "case report", "citation": "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.", "title": "AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull", "url": "https://pubmed.ncbi.nlm.nih.gov/41543485/", "date": "2026-01-16", "written_by": "independent", "quote": "The patient's mother used a smartphone application powered by Med-Gemini-3D to analyze a 3D-CT reconstruction image" } ] } }, "provenance": { "kind": "source_review", "basis": "Qualified the unnamed app's model attribution in the title, headline, and summary. Consolidated two excerpts of one clinical report into one evidence item. The abstract supports the diagnostic sequence and earlier interventions, but it does not identify the app or substantiate its connection to Med-Gemini-3D.", "record_fields": [ "evidence" ], "source_refs": [ "AIBD-0267-source-0001" ], "reviewed_on": "2026-10-24" }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].upstream_sources": { "state": "value_present", "value": { "kind": "structured", "data": { "origins": [ { "source_refs": [ "AIBD-0267-source-0001" ], "url": "https://pubmed.ncbi.nlm.nih.gov/41543485/", "doi": "https://doi.org/10.1097/SCS.0000000000012413", "title": "AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull", "published_on": "2026-01-16", "relationship": "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." } ], "same_work_access_versions": [ "https://europepmc.org/article/MED/41543485" ], "claim_lineage": [ { "claim": "The mother used an app to interpret a CT image; its suggestion prompted genetic evaluation and identification of a CDC42BPB variant.", "source_ref": "AIBD-0267-source-0001", "locator": "Abstract, third paragraph", "limitation": "The app is unnamed. Its connection to Med-Gemini-3D is the authors’ attribution and could not be independently established." }, { "claim": "The diagnosis facilitated earlier interventions and informed management.", "source_ref": "AIBD-0267-source-0001", "locator": "Abstract, fourth paragraph", "quote": "Establishing the diagnosis facilitated earlier therapeutic interventions and informed long-term management.", "limitation": "The accessible abstract provides no measured clinical improvement or follow-up duration." } ], "related_material": [ { "url": "https://research.google/blog/advancing-medical-ai-with-med-gemini/", "title": "Advancing medical AI with Med-Gemini", "published_on": "2024-05-15", "locator": "Conclusion, paragraph beginning “We’re excited”", "relationship": "Original Google Research and Google DeepMind announcement says that Med-Gemini was not a commercial product and invites research collaboration. It establishes a material access question, not proof that the later case report is false or that the model attribution is impossible." } ], "access_audit": [ { "url": "https://pubmed.ncbi.nlm.nih.gov/41543485/", "access": "Abstract, authorship, affiliations, conflicts statement, and listed reference metadata read." }, { "url": "https://research.google/blog/advancing-medical-ai-with-med-gemini/", "access": "Original developer announcement read, including model-access qualifications." } ], "limitations": [ "The full case-report text, any supplementary material, and the app’s identity were not verified.", "The original case remains included, with its existing depth unchanged. The model attribution is not established beyond the authors’ account." ], "ordering_basis": "One original clinical work, with its duplicate excerpt and alternate abstract host preserved in source notes.", "lead_source_ref": "AIBD-0267-source-0001", "retained_source_order": [ "AIBD-0267-source-0001" ], "scope": "Narrow review of source attribution and source roles. Case depths and unassessed study-design fields are unchanged. Access limits are stated below." } }, "provenance": { "kind": "source_review", "basis": "Qualified the unnamed app's model attribution in the title, headline, and summary. Consolidated two excerpts of one clinical report into one evidence item. The abstract supports the diagnostic sequence and earlier interventions, but it does not identify the app or substantiate its connection to Med-Gemini-3D.", "record_fields": [ "evidence", "headline", "title", "summary" ], "source_refs": [ "AIBD-0267-source-0001" ], "reviewed_on": "2026-10-24" }, "review_state": "reviewed", "coverage": "partial", "display": { "answer": "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.", "editor_note": "" } }, "strategic_assessments[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "family": "strategic assessments" }, "summary": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "summary": "An unnamed AI app suggested a skull abnormality, prompting genetic evaluation of a 22-month-old. 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A consumer app running Med-Gemini-3D cannot be verified from the abstract." } }, "provenance": { "kind": "source_review", "basis": "Qualified the unnamed app's model attribution in the title, headline, and summary. Consolidated two excerpts of one clinical report into one evidence item. 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No new source review is claimed.", "record_fields": [ "system", "ai_role" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].deployment_configuration": { "state": "value_present", "value": { "kind": "text", "text": "The mother used a smartphone application to analyze a three-dimensional reconstruction from her child’s CT scan." }, "provenance": { "kind": "legacy_record", "basis": "Separated the model, software, hardware, or operation already described in the existing record. No new source review is claimed.", "record_fields": [ "model_version", "system", "ai_role" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].inputs_outputs": { "state": "value_present", "value": { "kind": "text", "text": "The application analyzed an image reconstructed from a CT scan and suggested enlarged parietal foramina." }, "provenance": { "kind": "legacy_record", "basis": "Separated the model, software, hardware, or operation already described in the existing record. No new source review is claimed.", "record_fields": [ "system", "ai_role", "replication", "account" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].model_name": { "state": "value_present", "value": { "kind": "text", "text": "Med-Gemini-3D, as identified by the case-report authors." }, "provenance": { "kind": "legacy_record", "basis": "Separated the model, software, hardware, or operation already described in the existing record. No new source review is claimed.", "record_fields": [ "model_version", "system", "ai_role" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial", "display": { "answer": "Med-Gemini-3D, as identified by the case-report authors.", "editor_note": "The abstract names Med-Gemini-3D but does not identify the smartphone application or provide evidence of its model integration (reference 1)." } }, "systems[].model_version": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "model_version": "Med-Gemini-3D (Google, 2024) per the authors; the app's identity is not verified" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "model_version" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial", "display": { "answer": "Exact release not established.", "editor_note": "" } }, "systems[].product_name": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "system": "Smartphone application described by the authors as powered by Med-Gemini-3D" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "system" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].provider": { "state": "value_present", "value": { "kind": "structured", "data": { "application_developer": "Google (Med-Gemini-3D)" } }, "provenance": { "kind": "legacy_record", "basis": "Mapped from the existing case description without a new external source review.", "record_fields": [ "developer" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "taxonomy_crosswalks[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "title": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "title": "Mother's AI query prompts genetic evaluation and a CDC42BPB diagnosis in a 22-month-old", "headline": "Mother's AI query prompts a rare-disease diagnosis in a 22-month-old" } }, "provenance": { "kind": "source_review", "basis": "Qualified the unnamed app's model attribution in the title, headline, and summary. 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