Management of Smith-Lemli-Opitz Syndrome Type II associated with Cleft Palate

Abstract

Rationale: This case report presents the management of a patient with the rare occurrence of SmithLemli-Opitz Syndrome (SLOS) and complete cleft palate Patient Concerns: The patient's cleft palate repair was not done in infancy, and she reported to the dental institution complaining of difficulty with proper food intake and speech. A clinical examination revealed muscle deformity, limited neck mobility, scoliosis, malocclusion, and inadequate oral health. The patient exhibited facial and limb anomalies characteristic of SLOS, in tandem with substantial challenges in speech and nutrition due to the cleft palate. Diagnosis: The patient was referred to the dental wing to manage the cleft palate defect. On dental examination a complete cleft of the hard and soft palate, which had not been surgically corrected during infancy, was confirmed through clinical and radiological investigation. Additional musculoskeletal complications, including scoliosis and muscle deformity, were also identified. Interventions: The treatment plan addressed both SLOS and cleft palate. A prosthodontic appliance was prepared to assist with palatal function and speech therapy. Comprehensive care for SLOS included genetic counselling, nutrition management, and targeted physical therapy. The patient was also referred to an orthodontist, oral surgeon and a speech-language therapist further intervention. Conclusion: This case emphasizes the importance of early diagnosis and intervention in congenital disorders. It advocates for proactive, multidisciplinary care from infancy to enhance the quality of life for individuals with complex syndromes, underscoring the need for ongoing support and resources.