Longitudinal oral and craniofacial follow-up of a genetically confirmed girl with Potocki-Lupski syndrome and repaired complete cleft palate: A case report

Abstract

Introduction: Longitudinal data describing the oral and craniofacial development of patients with Potocki–Lupski syndrome (PTLS) are scarce, particularly in individuals with repaired cleft palate. We report the long-term dental and craniofacial follow-up of a genetically confirmed Venezuelan girl with PTLS and repaired complete cleft palate, highlighting the contribution of continuous pediatric dental care within a multidisciplinary craniofacial team. Case Report: A girl with repaired complete cleft palate was followed from the neonatal period through the mixed dentition stage, following genetic confirmation of PTLS by chromosomal microarray analysis. Comprehensive multidisciplinary evaluation documented developmental delay, generalized hypotonia, cardiovascular anomalies, gastrointestinal dysfunction, and food sensitizations. Dental management included fabrication of a neonatal palatal obturator, comprehensive preventive care, restorative treatment, orthopedic intervention, and full-mouth rehabilitation under intravenous conscious sedation. Longitudinal clinical and radiographic follow-up demonstrated satisfactory oral health, normal permanent tooth development, mild residual maxillary transverse constriction, a skeletal Class II relationship, and a hyperdivergent craniofacial growth pattern. Conclusion: This case illustrates the complexity of oral and craniofacial development in PTLS associated with repaired complete cleft palate and underscores the value of longitudinal pediatric dental follow-up in documenting growth and guiding clinical management. Continuous dental surveillance integrated within a multidisciplinary team facilitated timely preventive, restorative, and interceptive interventions while supporting long-term oral health and functional rehabilitation. Additional longitudinal studies are needed to define the oral phenotype of PTLS better and strengthen the evidence guiding multidisciplinary care.