Kamsi
Forum Guru
Topics: 103
Posts: 347
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37. A 14-year-old boy is brought to the physician by his parents because of a 2-year history of increasing academic problems. His parents say that he has always been hyperactive and distractible, but now his academic performance has deteriorated to the point that he is failing ninth grade. His teachers say that his hyperactivity is disrupting the classroom. He weighs 54 kg (120 lb) and is 152 cm (60 in) tall. Sexual development is Tanner stage 5; examination shows macro-orchidism, which was not shown on previous examinations. He has a high forehead and long, protruding ears. He exhibits poor eye contact during the examination. Psychoeducational testing shows an IQ of 70. Which of the following is the most likely diagnosis?
A
) Attention-deficit/hyperactivity disorder
B
) Autistic disorder
C
) Down syndrome
D
) Fetal alcohol syndrome
E
) Fragile X syndrome
F
) Lesch-Nyhan syndrome
G
) Pervasive developmental disorder, not otherwise specified
H
) Prader-Willi syndrome
I
) Rett's disorder
J
) Seminiferous tubule dysgenesis (Klinefelter's syndrome)
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| dermatology
Forum Elite
Topics: 30
Posts: 293
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F ????? HGPRT deficiency ......( problem with purine metabolism )
macro ears , MR , macro orchidism , long face .....
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| aaroho
Forum Junior
Topics: 8
Posts: 75
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E Fragile X syndrome
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Life is wonderful when doctors all around
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| dermatology
Forum Elite
Topics: 30
Posts: 293
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oh yeah .... fragile x syndrome ......
sorry not HGPRT def syndrome ( no self mutilation )
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| elitoki
Forum Guru
Topics: 54
Posts: 508
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E 
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| titly
Forum Elite
Topics: 17
Posts: 290
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fragile X syndrome
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we spend our days waiting for the ideal path to appear in front of us, but, what we forget is paths are made by walking, not by waiting. keep walking................................
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| numita
Forum Junior
Topics: 6
Posts: 54
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yup fragile x
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