Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature
Bibliographic record
Abstract
What's already known about this topic? Fibrodysplasia ossificans progressiva (FOP) (MIM: 135100) is a very rare autosomal dominant condition with a prevalence of 1:2,000,000. The clinical picture is characterized by congenital malformations of the great toes and progressive disabling heterotopic ossification. The genetic explanation is an activating mutation in the ACVR1, a bone morphogenetic protein type I receptor, which promotes osteogenic differentiation of connective tissue progenitor cells. What does this study add? We present the first case of prenatal diagnosis of FOP on ultrasound findings. Fetal bilateral hallux valgus, seen on second‐trimester ultrasound prompted the clinicians to consider this diagnosis even though family history was negative for FOP. The fetus had the recurrent c.617G > A mutation in ACVR1 gene. This case illustrates that FOP should be considered in the differential diagnosis of fetal hallux valgus to provide appropriate genetic counseling.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".