COUSIN SYNDROME; UNUSUAL GENETIC DISEASE PELVISCAPULAR DYSPLASIA AND CRANIOFACIAL DYSMORPHISM: A CASE REPORT AND REVIEW THE LITERATURE

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dc.contributor.authorAğır, Hatice
dc.contributor.authorKaraca, Şahika Burcu
dc.date.accessioned2025-01-21T16:13:21Z
dc.date.available2025-01-21T16:13:21Z
dc.date.issued2023
dc.departmentKırıkkale Üniversitesi
dc.description.abstractCousin 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.
dc.identifier.doi10.24938/kutfd.1175390
dc.identifier.endpage350
dc.identifier.issn2148-9645
dc.identifier.issue2
dc.identifier.startpage347
dc.identifier.trdizinid1200384
dc.identifier.urihttps://doi.org/10.24938/kutfd.1175390
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1200384
dc.identifier.urihttps://hdl.handle.net/20.500.12587/21906
dc.identifier.volume25
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofKırıkkale Üniversitesi Tıp Fakültesi Dergisi
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectNörolojik Bilimler
dc.subjectRomatoloji
dc.subjectAnatomi ve Morfoloji
dc.titleCOUSIN SYNDROME; UNUSUAL GENETIC DISEASE PELVISCAPULAR DYSPLASIA AND CRANIOFACIAL DYSMORPHISM: A CASE REPORT AND REVIEW THE LITERATURE
dc.typeArticle

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