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Record W2073234048 · doi:10.1002/ajmg.1263

Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: A new syndrome?

2001· article· en· W2073234048 on OpenAlexaff
Ahmad S. Teebi, Alison M. Elliott, E. Michel Azouz, Ralph S. Lachman

Bibliographic record

VenueAmerican Journal of Medical Genetics · 2001
Typearticle
Languageen
FieldMedicine
TopicInflammatory Myopathies and Dermatomyositis
Canadian institutionsMcGill University Health CentreMontreal Children's HospitalUniversity of TorontoHospital for Sick ChildrenSickKids Foundation
Fundersnot available
KeywordsMedicineFrontal BossingCraniofacialArthropathyDermatologySpondyloarthropathyAnatomyHypoplasiaSubluxationPathologyOsteoarthritis

Abstract

fetched live from OpenAlex

We report a 27-year-old man with an apparently new syndromic form of progressive erosive arthropathy and contractures of small and large joints associated with mild epiphyseal changes, normal vertebrae, and generalized osteopenia. The patient had a characteristic craniofacial appearance, dermatological abnormalities, and normal intelligence. The head was large with frontal bossing. The face was elongated with malar hypoplasia, thin upper lip, prominent lower jaw, high arched palate, dental malocclusion, and prominent ears with absent ear lobules. Dermatological abnormalities included malar erythema and facial telangiectasia together with multiple nevi and lentigenes all over the body. Pseudorheumatoid arthropathy, spondyloarthropathy, and Borrone dermatocardioskeletal syndrome were considered in the differential diagnosis and were excluded. Also, no similar cases have been found in POSSUM or the London Dysmorphology databases.

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: Case report · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.469
Threshold uncertainty score0.890

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.006
GPT teacher head0.243
Teacher spread0.237 · 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 designCase report
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

Citations1
Published2001
Admission routes1
Has abstractyes

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