$Unique_ID{BRK01015}
$Pretitle{Ill Defined Symptoms and Rare Diseases}
$Title{Information about Pena-Shokier Syndrome}
$Subject{Pena-Shokier description}
$Volume{N}
$Log{}

Copyright (c) 1991   Tribune Media Services, Inc.


Information about Pena-Shokier Syndrome


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QUESTION:  My grandson was diagnosed with the Pena-Shokier Syndrome when he
was first born, which we were told was always fatal.  He is 20 months old now
and is very smart.  He is ahead in all his mental development but has a lot of
physical problems.  It may be possible he doesn't have the syndrome and we
can't find much needed information.  He is a wonderful child and I do so want
him to live.  Can you help us?

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ANSWER:  This is a rare inherited condition, which affects the lungs, facial
and finger bones, knees and hips.  It first shows its effect while the baby is
still in the uterus, and can touch either boys or girls.  Occasionally there
are changes in brain growth which your grandson seems to have escaped.  All
the material I have been able to gather indicates that it is a fatal disease
during the first months of life, but perhaps it is in modified form in your
grandson.  It is also listed in some textbooks under the name of Bowen's
Disease.  Its rather long medical name is Pulmonary faciocamptodactyly
ankyloses, which may help you in your search for more information.  I would't
give up hope, in view of his progress.

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The material contained here is "FOR INFORMATION ONLY" and should not replace 
the counsel and advice of your personal physician.  Promptly consulting your 
doctor is the best path to a quick and successful resolution of any medical 
problem.
