Early‐Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a <i>PTEN</i> Variant
Bibliographic record
Abstract
We report a case of a male fetus with early-onset macrosomia and a pathogenic variant in PTEN identified on a macrocephaly and overgrowth sequencing panel. The pregnancy ended at 25 weeks gestation. On post-mortem examination, macrosomia was confirmed, and maturation of the brain was approximately 3 weeks ahead of that of the visceral organs. There was microscopic evidence of gonadoblastoid dysplasia, which is an extremely rare finding and has never been associated with PTEN hamartoma tumor syndrome (PHTS). To our knowledge, this is the first report of a prenatal phenotype with a heterozygous germline variant in PTEN.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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 | 0.000 |
| Research integrity | 0.000 | 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".