Waardenburg syndrome: About three cases at the Thies Regional Hospital Center
Bibliographic record
Abstract
Iris heterochromia is a congenital anomaly of iris colouration that occurs rarely. Whatever its intensity or laterality, it is often indicative of a malformative syndrome. The aim of this study was to investigate the epidemiological, clinical and therapeutic features of Waardenburg syndrome in the ophthalmology department of the Thies regional hospital. We report three cases of iris heterochromia including this syndrome diagnosed over a period of 4 years. Irial heterochromia was the main reason for consultation in the two girls, while the boy was consulted for sickle cell retinopathy. Auditory evoked potentials were carried out in all the children, revealing bilateral sensorineural hearing loss, thus making it possible to establish the association between congenital iris heterochromia, sensorineural hearing loss and Waardenburg syndrome. The diagnostic criteria of the Waardenburg consortium were used to classify the first and third patients as type 1 and the second patient as type 4. The absence of diagnostic certainty due to the contribution of genetics should never lead to a misdiagnosis. Ultimately, congenital iris heterochromia is a reality; however, its unilateral manifestation is rare. Ideally, clinicians should look for associated anomalies, as this heterochromia could conceal a malformative syndrome, as the management of these patients requires multidisciplinary consultation. Keywords: syndrome, Waardenburg, heterochromia, hearing loss, Thies.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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".