P.059 Weill-Marchesani Syndrome – a rare etiology for bilateral carpal tunnel syndrome in children
Bibliographic record
Abstract
Background: Carpal tunnel syndrome (CTS) is less common in children but can be associated with significant disability. Pediatric CTS can be associated with an underlying disorder most commonly storage disorders including mucopolysaccharidoses (MPS). We report a patient with bilateral severe CTS secondary to Weill-Marchesani Syndrome (WMS). Methods: A retrospective chart review was completed. Results: A five-year-old female presented with a three-year history of bilateral thumb weakness and insensate digits two and three. Nerve conduction studies (NCS) revealed severe bilateral CTS. She underwent bilateral carpal tunnel release (CTR). Unfortunately, post-operative NCS was unchanged. Ultrasound showed significant median nerve compression with flexor tendon thickening. Metabolic investigations showed no evidence of a storage disorder. Trio whole exome sequencing showed two de novo likely pathogenic variants in ADAMTS10: c.1174delC, p.H392TfsX9 and a deletion of exons 3-8. Her exam was also noted to show bilateral camptodactyly and brachydactyly, and bilateral cataracts characteristic of WMS. Conclusions: Identifying the etiology of CTS is important for management and prognosis. WMS is a genetic connective tissue disorder that can cause brachydactyly and abnormal tendon thickening, which can have implications on surgical outcomes. Awareness of this diagnosis prior to surgery would allow for better patient counseling and management decisions.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.013 | 0.002 |
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".