Multi-suture craniosynostosis in Sotos Syndrome: A case Report
Bibliographic record
Abstract
Study Design Case report. Objective Sotos syndrome is a rare genetic disorder which is characterized by excessive physical growth during the first few years of life. The principal features of this condition include macrocephaly, learning disability and physical overgrowth. The current diagnosis of Sotos Syndrome is based on identification of genetic mutations and deletions in the NSD family (the Nuclear-receptor-binding SET-Domain containing protein). Single suture craniosynostosis has been reported in a few cases of Sotos syndrome. We report an atypical presentation of multi-suture craniosynostosis in a child with Sotos Syndrome. Methods The initial phenotypical presentation was consistent with left coronal craniosynostosis. She underwent strip suturectomy and orthotic helmeting with failure to correct her anterior plagiocephaly and orbital dysmorphology. Additional post-operative investigations revealed a multi-suture craniosynostosis. She subsequently underwent an anterior cranial vault reconstruction and fronto-orbital advancement. Conclusions Sotos Syndrome can be associated with single or multi-suture craniosynostosis. This is likely driven by the overgrowth status of this disease. In our case report, the patient presents with unicoronal craniosynostosis which progressed to multi-suture craniosynostosis. Therefore, a multidisciplinary approach and close monitoring by craniofacial surgeons, neurosurgeons, developmental paediatricians and other allied teams is required in the care of such patients.
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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 | 0.003 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.004 |
| 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".