Browsing by Author "Canbay, Ali"

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Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia
(Journal of Medical Topics and Updates, 2023) Canbay Durmaz, Sevda; Güven, Ümran; Canbay, Ali; Özbağ, Davut; solgun Dağ, Selma
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.
Investigation of Demographic Characteristics and General Appearance of Individuals with Angelman Syndrome
(2025) Canbay, Ali; Dağ, Selma Solgun; Direk, Figen Koç; Durmaz, Sevda Canbay; Güven, Ümran; Özmutlu, Pınar
Aim: Angelman syndrome (AS) is an autosomal dominant neurogenetic condition seen in 1 in 10000-22000 as a result of UBE3A gene dysfunction and microdeletion of the 15q11-13 region. The aim of this study is to determine the differences and similarities between individuals with AS by evaluating the demographic characteristics and general appearance of patients diagnosed with AS. Material and Method: Age, gender, weight, height, BMI, weight, height and head circumference at birth, age of parents, type of birth, mother's gestation period, relationship status of mother and father, presence of genetic disease, dead or miscarried siblings number, parental smoking status, first appearance of clinical signs of the disease, epilepsy, scoliosis, sleep, nutrition, and speech problems, laughing attacks, tongue size, gait status, hair and eye color of 79 cases with genetic diagnosed AS case were evaluated. Results: Of the individuals with AS who participated in the study, 40 (50.6%) were boys and 39 (49.4%) were girls. 43 of the patients (54.4%) were walking. The earliest walker among these patients started walking at the age of 3, and the latest walker started walking at the age of 13. 31 (40.5%) of our patients started walking between the ages of 3 and 4. When we asked the families when they noticed the first symptoms, all families realized that there were developmental problems before the child was 24 months old and consulted a physician. In fact, 70 of the families (88.6%) understood the problem before 12 months. When the time of onset of symptoms in boys and girls was compared, it was seen that the onset of symptoms was on average 2.82 months earlier in boys than in girls (p=0.004). The majority of cases with AS were thin, fair-skinned and blue-eyed individuals. Conclusion: The parameters evaluated in our study revealed general and current data about the characteristics of individuals with AS.