EP07.03: A case of chondrodyplasia punctata in a lupic mother
Bibliographic record
Abstract
Chondrodysplasia punctata (CDP) is an etiologically heterogeneous condition and has been associated with genetic causes and teratogenic exposures (maternal vitamin K deficiency or warfarin…). Some types of chondrodysplasia punctata can be associated with peroxisomal disorders, and these cases are often associated with a more severe prognosis. Few cases of chondrodysplasia punctate associated with lupus and auto-immune diseases have been reported. We report a case of chondrodysplasia punctata in a 30 years-old G2P1 affected by systemic lupus erythematosus with positive anti-SSA and antiphospholipid antibodies. Her previous pregnancy was complicated by pre-eclampsia and HELLP syndrome at 34 weeks. She was followed in our high-risk centre because of her condition. Her prenatal screening was high risk for T21 (1/8) with normal nuchal translucency. At 19 weeks, a hypoplastic nasal bone with hypoplastic mid-face (like Binder syndrome) was discovered with precocious ossification of talus evoking stippled epiphyses and bilateral pyelectasis in a male fetus. An amniocentesis was performed for CGH-array and peroximal analysis: results were normal. The baby was delivered by Caesarean section at term. We concluded a diagnosis of chondrodysplasia punctata due to systemic lupus erythematosus. Ro/SSA antibodies have been considered in the physiopathologic mechanism. Thus, in addition to cardiac evaluation, fetal ultrasound with specific search for mid-face hypoplasia, rhizomely, and stipples epiphyses should be realised. Amniocentesis may be discussed to eliminate a chondrodysplasia punctate associated with peroxisomal disorders.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.003 |
| 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".