منابع مشابه
Clinical Aspects of Rett Syndrome
Rett syndrome (RTT) is a severe neurodevelopmental disorder and is the second most common form of severe mental retardation in females. RTT affects 1 in 8,000 births by the age of 15 and does not discriminate between racial or ethnic groups. It is a devastating condition characterised by progressive loss of speech and movement and the development of intellectual disability at a very young age. ...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملRett syndrome--two case reports.
Two cases of girls seen in Sarawak with the diagnosis of Rett Syndrome are reported. Their ages were 6 and 2 years respectively at the time of the report. Diagnosis is made clinically as there is as yet no scientific marker. Specific diagnostic criteria were met. There was a history of slowing of development followed by loss of previously acquired skills, changes in emotional development and be...
متن کاملRett syndrome--a rare and often misdiagnosed syndrome: case report.
Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-yea...
متن کاملRett syndrome: clinical review and genetic update.
Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS throu...
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ژورنال
عنوان ژورنال: Kuban Scientific Medical Bulletin
سال: 2021
ISSN: 2541-9544,1608-6228
DOI: 10.25207/1608-6228-2021-28-1-116-124