Neurological complications of cardio‐facio‐cutaneous syndrome
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurate molecular diagnosis of CFC. The aim of the study was to characterize neurological features of participants with molecularly-confirmed CFC. Medical records, and laboratory and imaging data were reviewed for 39 mutation-positive individuals with CFC. Participants with a clinical diagnosis of CFC but a negative result on mutation screening of the BRAF, MEK1, and MEK2 genes were excluded from the study. Mean age of participants was 9 years 4 months (range 18 mo-24 y); there were 24 females and 15 males. Mutations in B RA F were present in 32 participants, MEK1 in five, and MEK2 in two participants. Hypotonia, motor delay, speech delay, and learning disability were universally present in this cohort. Macrocephaly was present in 13 participants, ptosis in 11, strabismus in 14, and nystagmus in 11 of the 22 participants who underwent a neurological exam. Corticospinal tract findings were present in seven participants. Ventriculomegaly or hydrocephalus was present in 14 of 32 participants who underwent brain imaging. Other findings on magnetic resonance imaging included prominent Virchow-Robin spaces (n=6), abnormal myelination (n=4), and structural anomalies (n=5). Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed.
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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 it