EP17.10: Early diagnosis of Nager syndrome in dichorionic twins
Bibliographic record
Abstract
We present the case of a 33-year-old patient, G2P1, referred to our centre for a dichorionic-diamniotic twin pregnancy. She is now for a Crohn disease treated with Imuran. The first trimester ultrasound at 12 5/7 weeks showed a nuchal translucency for BB1 of 1,4mm associated with a microretrognathia. BB2 was normal with a nuchal translucency of 1,2mm. Four weeks later, an early morphology ultrasound was made demonstrating a severe retrognathia for BB1 and an estimated fetal weight below the third percentile. Moreover, the axis of the heart was deviated and they noted anomalies of both hands. BB2 showed no anomaly. Selective termination of pregnancy was decided by the couple and performed at 17 weeks of pregnancy without complication. An amniocentesis was performed and confirmed a Nager syndrome with an heterozygote mutation c.1A > G in the SF3B4 gene. The patient had a vaginal delivery at 40 weeks with no complication. Nager syndrome is a rare condition that mainly affects the development of the face, hands and arms. Its also called Nager acro-facial dysostose. The mode of transmission is autosomal dominant and the prevalence is unknown. Few cases of Nager syndrome have been reported. We presented a rare and early diagnosis of Nager syndrome and his management in dichorionic twins. 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 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 | 0.008 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.001 | 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".