<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.
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 imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
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 teacher head, 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".