Rhinoplasty Using Autologous Costal Cartilage in a Patient with Acrodysostosis

Abstract

Summary:. Acrodysostosis, a rare congenital syndrome, is characterized by peripheral dysostosis, nasal hypoplasia, mental retardation, and other skeletal deformities. Although severe saddle nose associated with midfacial hypoplasia causes great distress to patients, no studies have reported conducting rhinoplasty. In our experience, we suspected a boy with a significant saddle nose as having acrodysostosis and conducted genetic testing on the boy and his parents. Genetic analyses revealed that the patient had a deleterious mutation in the PDE4D gene that was not seen in either of his parents. Thus, the patient was diagnosed with de novo acrodysostosis. Rhinoplasty of the saddle nose using autogenous costal cartilage was planned; however, a major concern in using costal cartilage is the distortion caused by warping. To prevent this problem, a counterbalancing technique was used. After the surgery, no warping was observed during follow-up, and the patient and his family were satisfied with the outcomes. To our knowledge, we present the first case of surgical treatment of a patient with a saddle nose caused by acrodysostosis.