A natural history of cleidocranial dysplasia
Bibliographic record
Abstract
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities. The condition is caused by mutations in the CBFA1 gene, a transcription factor that activates osteoblast differentiation. Clinical characteristics associated with CCD have previously been described in case reports and small case series. This study was undertaken to gain a more complete delineation of clinical complications associated with CCD. The study population was composed of 90 CCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary Cesarean section rate was significantly increased compared to relative controls and the general population rate. Finally, dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, are serious and complex problems that require intervention. Clinical recommendations based on the results of this study are included.
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 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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".