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Answers: 2009 Series -  November 3, 2009 Lecture 9 of 52  NEXT»

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QOW110309

This six-year-old boy presented with reduced vision, short stature, and the equator of the lens is visible as shown in figures 1 and 2 above.

1. The most likely diagnosis is:

d -- Weill-Marchesani syndrome

This is an example of Weill-Marchesani syndrome.

"Weill-Marchesani Syndrome; Inverted Marfan Syndrome; Brachymorphy with Spherophakia; Dystrophia Mesodermalis Congenita Hyperplastica)

Clinical findings in Weil-Marchesani: Brachydactyly; reduced growth; athletic build with abundant subcutaneous tissue; short neck and large thorax; short and clumsy hands and feet; decreased joint flexibility; hearing defects; inheritable connective tissue disorder, usually inherited as an autosomal recessive."  [From:  Current Ocular Therapy, 6th ed., Fraunfelder FT and Roy FH, eds.]

2. Refraction in this case will be:

c -- myopic through the lens and hyperopic through the space between the edge of the pupil and equator of the lens

Refraction through the lens that is thickened because of the relaxed zonules will be myopic, while refraction around the lens, essential aphakia, will be hyperopic.

3. A common laboratory finding in this condition is:

c -- delayed carpal ossification

Delayed carpal ossification is seen in Weill-Marchesani.

 

 

 


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