<scp>B</scp>eckwith‐<scp>W</scp>iedemann Syndrome and Hemihyperplasia
Bibliographic record
Abstract
Abstract Beckwith‐Wiedemann syndrome is characterized by a triad of exomphalos, macroglossia, and gigantism. The population incidence is estimated to be 1 in 13,700 with equal incidence in males and females. This is likely an underestimate as cases with milder phenotypes may not be diagnosed. Some cases of isolated hemihyperplasia may, in fact, represent cases of Beckwith‐Wiedemann syndrome with reduced expressivity. Clinical features of Beckwith‐Wiedemann syndrome, in addition to the triad mentioned above, include hemihyperplasia, umbilical hernia, diastasis recti, embryonal tumors, adrenocortical cytomegaly, ear anomalies, visceromegaly, renal abnormalities, and neonatal hypoglycemia. Supportive findings may include polyhydramnios and prematurity, enlarged placenta, cardiomegaly, and characteristic facies. The latter feature is much more recognizable in early life and becomes less obvious over time. Beckwith‐Wiedemann syndrome is a complex multigenic disorder caused by alterations in growth regulatory genes on chromosome 11p15 and can currently be categorized into eight distinct genetic groups.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.020 | 0.002 |
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".