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2010 Series -  March 30, 2010 Lecture 40 of 52  NEXT»

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This 8-year-old girl presented with a history that on two occasions the right eye "popped out" between the lids. Description by the family indicated that the lids were actually behind the equator. The mother said she "pushed" on the eye and it "popped back" behind the lids. The child is in school, but the work is difficult for her. She has two siblings who are normal in appearance and no other blood relative looks like the patient. Visual acuity is 20/20 in each eye and refractive error is +0.50 in each eye. The media are clear and the fundus is normal in each eye.

1. Based on the appearance of the child including features such as: exophthalmos, hypertelorism, short upper lip, hypoplasia of the maxilla with relative prognathism, and beaked nose, the most likely diagnosis is:

a. Apert syndrome
b. Hermann-Opitz syndrome
c. Carpenter syndrome
d. Crouzon syndrome
e. Weis syndrome

2. This condition is caused by:

a. premature closure of the coronal suture
b. prematurity
c. autosomal recessive inheritance
d. (a) and (c)
e. all of the above

3. These patients exhibit the following:
a. normal life span
b. frequent visual impairment
c. occasional mental retardation
d. clinical findings that may be seen at birth
e. all of the above

For answers to the above, click here on or after April 6, 2010.



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