EP15.19: A case of prenatally diagnosed Pfeiffer syndrome
Bibliographic record
Abstract
A 35-year-old patient, G3P1A1, was referred to our tertiary unit for an abnormal ultrasound at 25 weeks. The fetal ultrasound demonstrated multiples abnormalities, a craniosynostosis with cloverleaf skull aspect, a protrusion of the eye balls and thumbs anomalies. Vertebral anomalies were also present. A fetal magnetic resonance imaging (MRI) confirmed craniosynostosis, facial dysmorphia, thick thumbs, a short trunk, thoraco-abdominal disproportion, and humero-radial synostosis. Pfeiffer syndrome was suspected. An amniocentesis was performed and found a mutation in the FGFR2 gene (c. 1019A>G). The patient opted to terminate the pregnancy at 28 weeks. An X-ray of the fetal skeleton confirmed the ultrasound abnormalities. Pfeiffer syndrome is a form of acrocephalosyndactyly, characterised by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. The genetic mode of transmission is variable (autosomal dominant or autosomal recessive or X-linked recessive). Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".