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  #1  
Old 04-20-2012
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Question A large four year old male?

A four-year-old male with psychomotor and cognitive delay is brought to the clinic by his parents. The physician noticed that the child is large for his chronological age with prominent forehead, macrocephaly, flat nasal bridge, pointed chin, and epicanthal folds. The patient weighed 30 kg (>97th centile), 121.5 cm tall (>97th centile) and his head circumference was 54 cm (>97th centile). His parents also mentioned that their child unusually eats a lot. What is the most likely diagnosis?

A) Congenital hyperthyroidism
B) Soto syndrome
C) Beckwith-Wiedeman syndrome
D) Noonan syndrome
E) Prune Belly syndrome
F) Williams syndrome
G) Phenylketonuria
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Old 04-20-2012
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seriously ... wts ur problem !!

these type of questions make everyone

many wish :sorry::sorry:they had nt got this type of a question

googled it and found B to be a probable choice
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Old 04-20-2012
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Ok, I confess - I googled this one...

it seems to be
Beckwith-Wiedeman syndrome

http://en.wikipedia.org/wiki/Beckwit...emann_syndrome
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Old 04-20-2012
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I think it is Sotos, the other options don't fit the description.
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Old 04-20-2012
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Quote:
Originally Posted by DocSikorski View Post
Ok, I confess - I googled this one...

it seems to be
Beckwith-Wiedeman syndrome

http://en.wikipedia.org/wiki/Beckwit...emann_syndrome
Not sure there is psychomotor and cognitive delay in Beckwith-Wiedeman syndrome
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Old 04-20-2012
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Quote:
Originally Posted by rapiddo View Post
Not sure there is psychomotor and cognitive delay in Beckwith-Wiedeman syndrome

I confess again - I regoogled it with "point chin sotos"

http://en.wikipedia.org/wiki/Sotos_syndrome

Sotos.

I hope these kids will not show up on my boards
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Old 04-20-2012
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Quote:
Originally Posted by pradeeprox View Post
seriously ... wts ur problem !!

these type of questions make everyone

many wish :sorry::sorry:they had nt got this type of a question
Thank God that it is not just me!
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Cmon guys, pretty simple basic stuff haha!
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Old 04-20-2012
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Man, I just hope we don't get such questions on the step!
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Old 04-20-2012
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this kids Q are getting scarier.. Gotta mug up the syndromes
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Quote:
Originally Posted by DocSikorski View Post
Cmon guys, pretty simple basic stuff haha!
... says the gut that got the wrong answer despite googling it.
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Old 04-21-2012
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Quote:
Originally Posted by Valkoff View Post
... says the gut that got the wrong answer despite googling it.
sarcasm
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Old 04-21-2012
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Show Teeth Answer is B. Soto Syndrome

Characteristic features of SOTO SYNDROME:

- Mutation in NSD1 gene on Chromosome 5, Usually Autosomal Dominant

- Facial features [Cerebral gigantism]: (Macrocephaly, Prominent forehead, Epicanthal folds, Flat nasal bridge, Pointed chin)

- Hyperphagia

- Learning Disabilities

- Overgrowth: Height/Head circumference >97th percentile
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Endocrine-, Pathology-, Step-1-Questions, Syndromes-Acronyms

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