Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy
Bibliographic record
Abstract
Abstract Objective Sonographic clues to the diagnosis of congenital myotonic dystrophy (CDM) are limited, particularly in the absence of family history of myotonic dystrophy (DM). We reviewed cases of CDM for unique prenatal findings. Study Design A single-center case series of fetuses with CMD with characteristic prenatal findings confirmed postnatally. Results Four fetuses with pre- or postnatally diagnosed CDM presented with macrocephaly in utero. While head measurements were appropriate for gestational age until midgestation, third-trimester head circumference and biparietal diameter were both >2 standard deviation (SD) above the mean in all. Abdominal and femur measurements were otherwise appropriate for gestation. Postnatally, the occipitofrontal circumference was >2 SD above the mean in all, confirming the diagnosis of macrocephaly. Conclusion CDM should be included in the differential diagnosis of third-trimester macrocephaly, especially in the presence of additional sonographic clues and when maternal medical history and physical examination are suggestive of DM.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| 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".