An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients
Abstract
:1. Introduction
2. Materials and Methods
2.1. Artificial Intelligence (AI) Analysis
2.1.1. DeepGestalt Algorithm
2.1.2. Facial D-Score Algorithm
2.1.3. GestaltMatcher Algorithm
3. Results
3.1. DeepGestalt Algorithm
3.2. Facial D-Score Algorithm
3.3. GestaltMatcher Algorithm
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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CISS1/CISS | ||
---|---|---|
Cohort 1 0–5 Years | Cohort 2 6–5 Years | Cohort 3 Facial Muscle Contraction |
Patient 1 [7] | Patient CS07 [1] | Patient C4 [4] |
Patient 1 [8] | Patient CS10 [1] | Patient H13 [4] |
Case 3 [10] * | Patient CS14 [1] | Patient H14 [4] |
Case 4 [10] * | Case 3 [10] * | Patient I14 [4] |
Patient 1 [11] * | Case 4 [10] * | Patient J15 [4] |
Patient 5 [12] * | Patient 1 [11] * | Patient K16 [4] |
Patient 1 [13] | Patient 2 [15] | Patient CS03 [1] |
Patient 1 [15] * | Patient 3 [17] | Patient CS37 [1] |
Patient 1 [15] * | Patient 1 [21] | Patient 1 [8] |
Patient 2 [15] | Case 2 [22] | Patient 1 [9] |
Patient A [18] * | Case 3 [22] * | Case 4 [10] * |
Patient A [18] * | Case 4 [22] | Patient 5 [12] * |
Patient B [18] * | Case 5 [22] | Patient 1 [14] |
Patient C [18] * | Patient 1 [16] | |
Patient C [18] * | Family 1 patient V1 [5] | |
Patient 1 [19] * | Family 2 patient V2 [5] | |
Patient 3 [20] | Family 3 patient V6 [5] | |
Case 1 [22] | Family 4 patient IV1 [5] | |
Case 7 [22] * | Patient 1 [17] | |
Patient 2 [17] | ||
Patient A neonatal [18] * | ||
Patient A infancy [18] * Patient B [18] * | ||
Patient C [18] * | ||
Patient 1 [19] * | ||
Patient 1 [20] | ||
Case 3 [22] * | ||
Case 7 [22] * | ||
Case 13 [22] | ||
Case 14 [22] |
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Pascolini, G.; Didona, D.; Tarani, L. An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients. Diagnostics 2025, 15, 521. https://doi.org/10.3390/diagnostics15050521
Pascolini G, Didona D, Tarani L. An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients. Diagnostics. 2025; 15(5):521. https://doi.org/10.3390/diagnostics15050521
Chicago/Turabian StylePascolini, Giulia, Dario Didona, and Luigi Tarani. 2025. "An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients" Diagnostics 15, no. 5: 521. https://doi.org/10.3390/diagnostics15050521
APA StylePascolini, G., Didona, D., & Tarani, L. (2025). An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients. Diagnostics, 15(5), 521. https://doi.org/10.3390/diagnostics15050521