Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome
Bibliographic record
Abstract
Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant disorder characterized by craniofacial dysmorphism, broad halluces and thumbs, variable structural abnormalities and intellectual disability. It is caused by a pathogenic variant in the CREBBP or EP300 genes. Although distinctive features are described, prenatal diagnosis is rare. We report five prenatally diagnosed cases of RSTS, all with brain abnormalities. On neurosonography, corpus callosum abnormalities were found in 3/5 cases. The remaining two cases had abnormal posterior fossas, one with vermian hypoplasia and the other with Dandy-Walker malformation (DWM). A CREBBP gene mutation was identified in all cases-two on microarray (CMA) and three on Trio-whole-exome-sequencing (Trio-WES). This report will allow for a better understanding of the fetal brain findings associated with RSTS.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".