Multidisciplinary Orthodontic and Home Sleep Apnea Testing-Based Assessment of Sleep-Disordered Breathing in a Pediatric Patient with Gorlin–Goltz Syndrome: A Case Report

Background: Gorlin–Goltz syndrome is a rare autosomal dominant condition with characteristic craniofacial and odontogenic anomalies. Orofacial alterations in childhood may precede dermatological findings, highlighting the relevance of early orthodontic and functional evaluation. Objective: This case describes a multidisciplinary orthodontic and Home Sleep Apnea Testing (HSAT)-based approach for the assessment of craniofacial morphology and sleep-disordered breathing (SDB) risk in a pediatric patient with Gorlin–Goltz syndrome. Methods: A 12-year-old male with a genetically confirmed PTCH1 mutation underwent digital intraoral scanning, orthodontic evaluation, and SDB screening using the Pediatric Sleep Questionnaire (PSQ). Following a positive screening score, HSAT with the Philips Alice NightOne® system was performed under specialist supervision. Results: The patient showed recurrent odontogenic cysts, a lateral open bite, and unilateral Class II canine relationship. The PSQ score was 0.579, exceeding the validated cut-off of 0.33 and indicating an elevated SDB risk. HSAT findings were suggestive of mild obstructive sleep apnea based on Respiratory Event Index (REI) values (REI 4.7/h), with an isolated SpO2 nadir of 77% and a maximum recorded apnea duration of 425 s, warranting cautious specialist interpretation and follow-up assessment. Conclusions: Integrating orthodontic assessment, digital documentation, validated screening tools, and objective HSAT-based evaluation may support the early recognition of functional compromise in syndromic pediatric patients. Positive screening results should prompt specialist referral and objective sleep assessment, while attended polysomnography remains indicated when comprehensive sleep architecture evaluation or definitive characterization is required.