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2009 Series -  March 10, 2009 Lecture 43 of 52  NEXT»

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Figure 1. Microphthalmic left eye


Figure 2. left - Claw deformity of the hand with syndactyly; right - adactyly, syndactyly, and claw deformity of the foot

Figure 3. Multiple skin papillomas are shown on the trunk

This 3-year-old female was presented with a complaint of a small left eye present since birth. Four older and one younger sibling were said to be normal. On examination the right eye appeared normal. The left eye was microphthalmic with iris coloboma. The details of the fundus could not be seen because of poor cooperation. Systemic examination revealed patchy hyperemic macules over the head, ear, and large areas of the trunk. In addition, there was oligodactyly, syndactyly of the left hand and foot and dysplastic nails on the left hand and foot with “lobster claw” deformity on both. There appeared to be left facial hemiatrophy and low set ears.

1. What is the diagnosis?

a. Fletcher’s syndrome
b. Refsun syndrome
c. Nance syndrome
d. Goltz syndrome
e. none of the above

For answers to the above, click here on or after March 17, 2009.

 

 


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