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Old 09-08-2012
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Arrow Gyrus Daily Questions; Pediatrics #23

A 3-year-boy with severe hypotonia and mild mental retardation is severely obese. He is obsessed with eating and does not have a sense of satiation. What abnormality will you most likely find?


(A) macrocephaly
(B) height greater than 95%
(C) large hands and feet
(D) thyromegaly
(E) micropenis and cryptorchidism
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Old 09-08-2012
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E

Prader Willy syndrome; have small genitalia

Deletion of the Paternal 15 chromosome (so they have only maternal)
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Originally Posted by XpaezX View Post
E

Prader Willy syndrome; have small genitalia

Deletion of the Paternal 15 chromosome (so they have only maternal)
You are correct ..

Answer E


(E) Prader-Willi syndrome is characterized by hypotonia, hypogonadism, obesity, short stature, mental retardation, and undescended testis in males. Although there may be feeding difficulties in infancy, these children eventually develop excessive appetites and obesity. The obesity accentuates the appearance of a micropenis. Hypotonia becomes less marked with time. Hands and feet are generally very small. Microcephaly can be an occasional abnormality. Approximately 70% of affected individuals have a microdeletion of the long arm of the paternal derived chromosome 15. The majority of the remainder are due to two maternal copies of the long arm of chromosome 15 and no paternal copy.
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