Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology
Bibliographic record
Abstract
Perthes disease typically presents between the ages of 4 and 9 years and is characterized by unilateral or bilateral avascular necrosis of the femoral head. Clinically it presents with pain and decreased range of motion and has a disease course of up to 5 years. We report the clinical and radiological findings of a female in early adolescence who was referred to pediatric physiotherapy and found to have Perthes-like changes of the hip, on a background of tricho-rhino-phalangeal syndrome type 1 (TRPS1). The patient's first symptoms of hip pain were reported at age 10, but there was no radiographic evidence until 2.5 years later when a diagnosis of Perthe's disease was made. This uniquely late presentation may have been due to the altered skeletal maturation seen in TRPS1, whereby skeletal age lags behind chronological age. This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.
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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 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".