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Record W1977050789 · doi:10.1002/ajmg.a.35788

Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis

2013· article· en· W1977050789 on OpenAlexaff
Judith G. Hall

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2013
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsBC Children's HospitalUniversity of British Columbia
Fundersnot available
KeywordsArthrogryposisPathognomonicMedicineAnatomyMuscle contractureContractureOrthodonticsSurgeryPathology

Abstract

fetched live from OpenAlex

Among 2,500 cases of arthrogryposis, 14 families and 17 individuals were identified that had a linear vertical crease (indentation/dimple) along the anterior tibia, usually bilaterally. Approximately half had developmental delay/intellectual disability and the others had normal intellectual development. There are generalized flexion contractures with the legs more severely affected than the arms. The ankles are flexed at birth suggesting a relationship of contraction of the anterior tibial compartment to the in utero development of the anterior tibial crease. Dislocated hips are seen in 60%. Hands open with physical therapy and become quite functional. Those with normal intelligence are ambulatory, often with a crouching stance. Three families had recurrence suggesting a recessive pattern of inheritance. All parents were normal. No affected individuals have had offspring. Several have had CGH arrays, which were normal. The presence of this crease in cases of arthrogryposis appears to be a helpful clinical observation and may even be pathognomonic.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.003
Threshold uncertainty score0.012

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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 head0.031
GPT teacher head0.348
Teacher spread0.317 · 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 source (direct Gemma or distilled Codex), 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

Citations17
Published2013
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicNeurogenetic and Muscular Disorders ResearchFrench-language works237,207