RETT SYNDROME : CASE REPORT
نویسندگان
چکیده
منابع مشابه
Rett 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...
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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...
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In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
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ژورنال
عنوان ژورنال: THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY
سال: 2011
ISSN: 1226-8496
DOI: 10.5933/jkapd.2011.38.1.068