Hyperdynamic Valve: A Rare Case of Ehlers-Danlos Syndrome
Bibliographic record
Abstract
Ehlers-Danlos syndrome is a group of rare genetic disorders of collagen characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The authors describe a rare case of a 52-year-old woman that presented to the clinic with chronic joint pain and talipes equinovarum since childhood. Large eyes, sunken cheeks, thin nose and lobeless ears were noticed on clinical examination. Beighton joint hypermotility criteria were met with a positive Walker and Steinberg sign, elbow extension superior to 10° and knee extension in genu recurvatum more than 10°. An aortic diastolic grade III/VI heart murmur was heard. The complementary study was unremarkable. Moderate aortic insufficiency was found on transthoracic echocardiogram. Genetic testing confirmed positivity for COL1A2, a gene that encodes pro-alpha2 chain type of collagen, which causes cardiac-valvular Ehlers-Danlos syndrome. Authors intend to warn to collagen-related syndromes, since severe complications are associated with a reduced life expectancy for individuals with this condition.
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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 | 0.004 |
| 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 | 0.000 |
| 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".