Bibliographic record
Abstract
Nager Syndrome is characterized by craniofacial and upper limb anomalies. The majority of patients are affected by sporadic disease. Yet, familial cases have been reported where patients are affected by mutations in SF3B4 gene or express 3p14 common fragile site. Aberrations in the first, second branchial arches and limb buds are responsible for the phenotypic presentations [1,2]. The diagnostic features of NS can be categorized into craniofacial, limb and skeletal anomalies that give these patients an atypical appearance. Hallmark of the facial findings are: down slanting palpebral fissures, malar and mandibular hypoplasia, high nasal bridge, micrognathia, external ear anomalies, and cleft palate. Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3]. In addition, other features that have been less often identified in NS are internal organ anomalies associated with cardiovascular, gastrointestinal, genitourinary and central nervous systems [4]. To our knowledge, no previous reports of patients with Nager Syndrome (NS) and solid organ donation have been described in the literature.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.009 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".