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  #1  
Old 07-22-2012
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Question X-Linked Developmental Regression!

Parents of a 14-month-old girl are concerned about the child's almost constant shaking or wringing hand motions. The child developed normally until recently when growth slowed, along with decreased interest in playing with toys. The child no longer shows interest in sitting and crawling. Initial language development has diminished. Genetic analysis reveals a mutation in an X-linked gene, MECP2. What is the most likely diagnosis?

a) Angelman syndrome
b) DiGeorge syndrome
c) Miller-Dieker syndrome
d) Patau syndrome
e) Rett syndrome
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  #2  
Old 07-22-2012
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Rett syndrome....clinical features are obvious but dint hear of MECP2 mutation.....
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Old 07-22-2012
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Eeee....Retts
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  #4  
Old 07-25-2012
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Default correct answer :)

yup, correct answer is E) Rett syndrome.

Rett syndrome is a neurodevelopmental X-linked dominant disorder that occurs almost exclusively among females (affected males die either before birth or shortly after birth). It is caused by mutations in the MECP2 gene, a mediator of gene expression and transcriptional silencing. There are four stages of Rett syndrome: early onset, rapid destructive, plateau or pseudostationary, and late motor deterioration. As with many patients, symptoms in the early onset stage may be overlooked. The onset of distinctive hand motions and loss of developmental skills may be the first symptoms of significance as well as the most defining.
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