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A 5 ½ y/o girl with seizures and ataxia. The result of an apparently norm pregnancy and birth, pat progressed normally until the middle of her 2nd year, when she began losing speech and motor skills. There was a marked deceleration in the growth of her head during this same period. By 24 months, she had developed a pattern of hand wringing, but had lost the use of her hands for other purposes and had severe impairment in expressive and receptive language.
Dx?
a)Patau syndrome
b)Edward syndrome
c)DiGeorge syndrome
d)Miller dicker syndrome
e)Rett syndrome
72sec.........................
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Can u dissect Miller dicker syndrome ?
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never heard of it,is it imp??
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Is extremely rare, But, who knows as Dr. Raymon say ( u must know for step 2 ped); just know deletion/chrom 17 you see face & head microcephaly and high forehead/ bitemporal pitting u may see in scenario talking about lip. But most important asso “Lissencephaly”/smooth brain or pachygyria. They may through at u heart defect/ cryptorchism/ clouding of cornea/ muscle tone… and more crap they can through at u.
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Rett Syndrome
genetic postnatal neurological disorder of the grey matter of the brain[
females but has also been found in male
a deceleration of the rate of head growth (includingmicrocephaly in some).
Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth,
Scoliosis, growth failure, and constipation are very common and can be problematic.
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yyesyes u r all correct abt Retts we were talking abt the Miller Dicker Synd
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hehehe i must need a break!!!!
