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Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia

dc.authorid 0000-0002-7792-5306
dc.authorscopusid 57226807106
dc.authorwosid JPK-9325-2023
dc.contributor.author Canbay Durmaz, Sevda
dc.contributor.author Güven, Ümran
dc.contributor.author Canbay, Ali
dc.contributor.author Özbağ, Davut
dc.contributor.author solgun Dağ, Selma
dc.contributor.other Department of Basic Medical Sciences / Temel Tıp Bilimleri Bölümü
dc.date.accessioned 2023-12-30T18:12:49Z
dc.date.available 2023-12-30T18:12:49Z
dc.date.issued 2023
dc.department MAÜ, Fakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Anatomi Ana Bilim Dalı en_US
dc.description.abstract Achondroplasia is an autosomal dominant disorder. But 80% of cases are sporadic. Its incidence is between 1/25000 and 1.5/10000. Significant shortening of the femur and humerus occurs in patients with achondroplasia. This shortness causes the appearance of rhizomelic type of dwarfism. Since the skull of patients with achondroplasia is large during delivery, it may cause difficult delivery. During infancy, hypotonia is more dominant. Many patients also have delayed motor development. Our aim in the study is to present the successful physical therapy and rehabilitation process of our patient diagnosed with achondroplasia for one year and her condition from diagnosis to treatment. Our patient was born via cesarean section on 12.02.2020. The weight of the baby girl was 3500 grams. The mother's height was 162 cm. and the father's height was 174 cm. The mother was 23 years old and the father 27 years old. The same diagnosis was not present in any living relative of the patient. The patient was 1 year old when she applied to our center. She had completed head control and had not yet acquired the skills of rolling over, crawling, and sitting without support. Gross motor skills such as assisted standing and stepping were not developed. In this direction, after a 1-year physical therapy and rehabilitation period applied in 2 sessions a week, the patient gained the ability to walk independently. en_US
dc.description.citation CANBAY DURMAZ, S., GÜVEN, Ü., CANBAY, A., ÖZBAĞ, D., vd. (2023). Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia. Journal of Medical Topics and Updates, 2(3), 70-73. https://doi.org/10.58651/jomtu.1339632 en_US
dc.identifier.doi 10.58651/jomtu.1339632
dc.identifier.endpage 73 en_US
dc.identifier.issue Sayı: 3 en_US
dc.identifier.startpage 70 en_US
dc.identifier.uri https://dergipark.org.tr/tr/download/article-file/3316362
dc.identifier.uri https://hdl.handle.net/20.500.12514/5346
dc.identifier.volume 2023 - Cilt: 2 Sayı: 3 en_US
dc.institutionauthor Canbay Durmaz, Sevda
dc.language.iso en en_US
dc.publisher Journal of Medical Topics and Updates en_US
dc.relation.ispartof Journal of Medical Topics and Updates en_US
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.rights info:eu-repo/semantics/openAccess en_US
dc.subject Achondroplasia, Physical therapy, Musculoskeletal diseases, Autosomal dominant en_US
dc.title Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia en_US
dc.type Article en_US
dspace.entity.type Publication
relation.isAuthorOfPublication 598650e5-d9ab-4ed4-aa1b-9e8f7aa1414d
relation.isAuthorOfPublication.latestForDiscovery 598650e5-d9ab-4ed4-aa1b-9e8f7aa1414d
relation.isOrgUnitOfPublication ba421768-5f1e-47b4-9440-6a077f5f161d
relation.isOrgUnitOfPublication.latestForDiscovery ba421768-5f1e-47b4-9440-6a077f5f161d

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