Clinical Genetic Aspects
摘要
This chapter discusses the clinical features of individuals with Apert syndrome and shares our experience with children diagnosed with this condition who are treated at a specialized hospital, recognized as a national and international referral center, located in the interior of the state of São Paulo, Brazil. Individuals with Apert syndrome typically require a series of complex surgical interventions to treat craniofacial and limb anomalies, as well as ongoing monitoring and treatment for associated functional impairments, including respiratory, cognitive, and developmental difficulties. Apert syndrome requires a multidisciplinary approach to treatment, involving specialists in neurosurgery, plastic surgery, genetics, ophthalmology, otolaryngology, orthopedics, orthodontics, psychology, and speech therapy. In this context, we performed an analysis of the phenotypic characterization of Apert syndrome based on literature, as well as the clinical variability of craniofacial and limb characteristics observed in 99 individuals treated at our institution. The phenotypic variability highlights the challenges associated with diagnosis and clinical management in a public health context, underlining the importance of developing individualized clinical protocols. These protocols should include expanding access to genetic testing, ensuring optimized care, and providing appropriate genetic counseling.