Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report
Bibliographic record
Abstract
INTRODUCTION: Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies. Vosoritide, a C-type natriuretic peptide analogue that counteracts FGFR3 overactivation, improves growth in achondroplasia, but its effects in TD1 remain unexplored. CASE PRESENTATION: We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T). Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months. Growth velocity, anthropometry, pulmonary function, densitometry, and safety were assessed longitudinally over 28 months. At baseline, height was 78.6 cm (-10.9 SDS) and annual growth velocity (AGV) 1.6 cm/year (-4.7 SDS). After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm/year (+3 SDS from baseline). Lung vital capacity improved by 65%. Serial MRI demonstrated persistent severe foramen magnum stenosis without radiological progression. Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged. CONCLUSIONS: Vosoritide was well tolerated and improved growth velocity and lung function in this long-term TD1 survivor, suggesting therapeutic potential even in severe FGFR3 overactivation. Given TD1's rarity, larger studies and further off-label experience are essential to validate these findings.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.003 |
| 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".