309 A REPORT OF SCHINZEL-GIEDION SYNDROME AND A REVIEW OF THE LITERATURE.
Bibliographic record
Abstract
We report the forty-third case of Schinzel-Giedion syndrome in the English literature. In the antenatal period, a male fetus was found to have bilateral hydronephrosis. The family history was noncontributory. Polyhydramnios preceded premature delivery at 36 weeks, and the infant was found to be plethoric, edematous, and dysmorphic. In keeping with a diagnosis of Schinzel-Giedion syndrome, the fontanelles were large and widely apart down to the nasal bone; there was hypertelorism, a wide, broad forehead, midface hypoplasia, a short, upturned nose, macroglossia, and a short neck. Other anomalies included a complex cardiac defect, widened and dense long bone cortices, mild ventriculomegaly, and abnormal fundi. Investigations for metabolic conditions were negative, the karyotype was 46 X,Y, and testing for an infectious etiology was negative. Massive bilateral hydronephrosis secondary to UPJ obstruction progressed and contributed to multisystem organ failure, with death at 13 days of life. Schinzel-Giedion syndrome is thought likely to be an autosomal recessive condition for which the genetic locus has not yet been discovered. A novel, unknown metabolic process has been hypothesized as the pathogenic mechanism.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.007 | 0.004 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.005 |
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".