منابع مشابه
Microduplication 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 کاملThe Ironies of Human Mind: A Case of Rett Syndrome
BACKGROUND Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with profound mental retardation and almost exclusively affects females. CASE DETAILS A four and a half year old girl reported to our dental OPD for a dental checkup. On compl...
متن کاملa comparison of linguistic and pragmatic knowledge: a case of iranian learners of english
در این تحقیق دانش زبانشناسی و کاربردشناسی زبان آموزان ایرانی در سطح بالای متوسط مقایسه شد. 50 دانش آموز با سابقه آموزشی مشابه از شش آموزشگاه زبان مختلف در دو آزمون دانش زبانشناسی و آزمون دانش گفتار شناسی زبان انگلیسی شرکت کردند که سوالات هر دو تست توسط محقق تهیه شده بود. همچنین در این تحقیق کارایی کتابهای آموزشی زبان در فراهم آوردن درون داد کافی برای زبان آموزان ایرانی به عنوان هدف جانبی تحقیق ...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2018
ISSN: 2338-476X,0030-9311
DOI: 10.14238/pi29.11-12.1989.241-4