Diagnosing Sotos Syndrome in the Setting of Global Developmental Delay and Macrocephaly
Bibliographic record
Abstract
Sotos syndrome (cerebral gigantism) is characterized by macrocephaly, global developmental delay, characteristic facial dysmorphology, and a markedly advanced bone age. The purpose of this study was to describe the prevalence of Sotos syndrome in a consecutive series of patients with global developmental delay, which might modify our laboratory evaluation approach to this particular clinical situation. For a 10-year inclusive interval, the case records of all consecutive patients referred for global developmental delay in a single pediatric neurology practice were reviewed. Patients with macrocephaly were defined by an age- and gender-adjusted head circumference greater than or equal to the 98th percentile. Possible clinical factors associated with eventual diagnosis of Sotos syndrome in this group of macrocephalic children were tested with a two-tailed Fisher exact test. Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly. Of these 18 children, 3 (17%) had an advanced bone age and were diagnosed with Sotos syndrome. In patients with global developmental delay and concomitant macrocephaly, Sotos syndrome is not uncommon. Assessment of bone age is a simple screening test for diagnosis of this entity and should be undertaken routinely in children with macrocephaly and global developmental delay even in the absence of other distinctive syndromic clinical features.
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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 | 0.001 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".