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Record W2045066103 · doi:10.1002/ajmg.b.10715

Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum

2002· article· en· W2045066103 on OpenAlexaff
Navdeep Nijhawan, Yair Morad, Jacqueline Seigel‐Bartelt, Alex V. Levin

Bibliographic record

VenueAmerican Journal of Medical Genetics · 2002
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCraniofacial Disorders and Treatments
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersCore Research for Evolutional Science and Technology
KeywordsHemifacial microsomiaGoldenhar syndromeMedicineGestationCongenital disorderAnatomySurgeryPregnancyBiologyCraniofacial

Abstract

fetched live from OpenAlex

Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.543
Threshold uncertainty score0.305

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.247
Teacher spread0.239 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations33
Published2002
Admission routes1
Has abstractyes

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