Surgical and Multidisciplinary Approaches in Managing Alfi Syndrome With Trigonocephaly

Chromosome 9q deletion syndrome, also commonly referred to as Alfi syndrome, is an extremely rare genetic multiorganic disorder characterized by a wide array of clinical features, including craniofacial abnormality, congenital cardiac defects, hypotonia, developmental delay, and behavioral issues. The objective of this patient report is to describe the clinical presentation, treatment, management, and outcomes over a 7-year follow-up period for a young male patient diagnosed with Alfi syndrome, accompanied by severe trigonocephaly. The patient, in this case, underwent fronto-orbital advancement at 8 months of age to address metopic craniosynostosis. Due to a repetitive pattern of multiple behaviors, the patient was prescribed psychiatric medication, and the patient's parents attempted to enroll the patient into an autism-based behavioral management program. The patient was determined to be ineligible for treatment under that program due to his Alfi diagnosis. Consequently, the patient's parents enrolled the patient in a special multisyndrome program that included psychiatric medication, cognitive psychology, occupational and speech-language therapy, and physical therapy, administered by a cohesive team following a specific methodology. After inclusion into this program, the patient's cognitive and motor skills significantly improved, along with a significant reduction in the patient's Alfi behavioral patterns. The present case demonstrates the complexity and rarity of Alfi syndrome, emphasizes the importance of craniofacial surgery, and the critical need for further genetic studies to establish stronger genotype-phenotype correlation with behavioral patterns and the creation of effective, robust management and syndrome-specific treatment guidelines with longitudinal follow up.