Congenital primary cutis verticis gyrata
Bibliographic record
Abstract
Congenital cutis verticis gyrata (CCVG) affects 1 in 100 000 males and 0.026 in 100 000 females. Characterized by thick skin folds and grooves on the scalp resembling the outer surface of the brain (1), CCVG can present in primary and secondary forms (2). The inheritance of this condition remains controversial (3). While primary CCVG has been associated with chromosomal abnormalities as Noonan and Turner syndromes, there are no many reports of CCVG in a patient with Trisomy 21 (4). Timely recognition of CCVG is important as this condition is linked to serious neurological and ophthalmological anomalies. Our patient was born to a healthy 36-year-old primigravida Asian mother. The pregnancy was uneventful until 29 weeks of gestational age when she went to spontaneous labour and delivered by unassisted vaginal delivery a 1150-gm male infant. On initial assessment, among typical features of trisomy 21 (flat occiput, flattened facial appearance, small brachycephalic head and epicanthal folds), deep cerebriform folds and wrinkles over the entire scalp more prominent in the parietal-occipital region were noted (Fig. 1). On palpation the area was spongy, with no erythema, infiltration or skin defects. Cranial and abdominal sonography, ophthalmological assessment were normal. Genetics and dermatology were consulted, and the condition was diagnosed as CCVG. Diagnosis of trisomy 21 was confirmed by microarray. The infant had an uneventful hospital course and was discharged to home after 6 weeks. No further investigations or interventions for this condition were required. At his 12-month assessment there has been no progression of the condition noted. Patient at the first week of life showing the asymmetrical skin folds extending from the occiput to the scalp. None. None declared. Unfunded. Not required. Confirmation of written consent from patient/guardian: parental consent provided.
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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 | 0.000 | 0.005 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.005 | 0.003 |
| Science and technology studies | 0.002 | 0.003 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.009 | 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".