Neuroimage - Band heterotopia in Zellweger syndrome \n(cerebro-hepato-renal syndrome)
Bibliographic record
Abstract
Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus.This pattern of malformations was first recognized in 1964 by Bowen and Smith. [1]Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. [2] A full term, intrauterine growth restricted, male neonate was born to a 32-year-old, gravida 3, para 1 mother via spontaneous vaginal delivery.Polyhydramnios was noted in the pregnancy.Fetal ultrasonography demonstrated bilaterally enlarged ventricles in the brain and talipes equinovarus at 29 weeks of gestation.Apgar scores were 6 and 8 at 1 and 5min respectively.This patient presented with seizures at the time of birth and had classical findings suggestive of Zellweger syndrome including generalized hypotonia, large anterior fontanelle (6 x 6 cm), flat occiput, high forehead with shallow supraorbital ridges, mild micrognathia, weak suck, weak cry, single transverse palmar crease (simian crease), contractures at elbows and knees, short humeri, hepatomegaly, patent ductus arteriosus and ventricular septal defect and cryptorchidism.
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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 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.009 | 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".