Cousin Sendromu; Sıradışı Genetik Hastalık ve Pelviskapular Displazi ve Kraniofasyal Dismorfizm: Bir Vaka Sunumu ve Literatürün İncelenmesi

Abstract

Cousin Syndrome; also called pelviscapular dysplasia, is a genetic disease caused by TBX15 gene mutation, which is characterized by craniofacial dysmorphism and various musculoskeletal anomalies. Cousin Syndrome was first described in the literature by Cousin et al. in 1982 in two North African siblings. So far only three unrelated individuals have been reported in the literature with otozomal recessive mutations in TBX15. In our case, a 50-year-old female patient with Cousin syndrome who had pelvic and scapular hypoplasia accompanied by craniofacial dysmorphism, short stature and extremity, scoliosis, humeroradial synostosis, and rehabilitation results are presented. We wanted to contribute to the literature by describing the clinical features of a patient with Cousin Syndrome, which is very rare in the world. At the same time, we wanted to emphasize the importance of rehabilitation in this patient who has a wide range of musculoskeletal deformities and limitation in daily living activities due to a genetic skeletal dysplasia.