Where We Are Now
In late summer of
2004, Dr, Judith Hall published an article in the American
Journal of Medical Genetics entitled "Majewski
Osteodysplastic Primordial Dwarfism Type II (MOPD
II): Natural History and Clinical Findings". The article
includes both the major symptoms of the syndrome and many
pictures illustrating the common physical features of MOPD II.
You can download a PDF file of the article by clicking here.
The publication of
this article, coupled with publicity from recent television
programs dealing with the subject of Primordial Dwarfism, have
helped increase awareness of these syndromes, and perhaps also
had a hand in the increased number of diagnosed cases. While
there are several facilities around the world who have made
diagnosis of MOPD II, the Skeletal Dysplasia Program of the A.I.
duPont Hospital for Children in Wilmington, DE has been the
leader in the diagnosis and treatment of this rare condition.
More information on
the program can be found here: http://www.nemours.org/skeletaldysplasia.
The staff at the
Skeletal Dysplasia Program at duPont are pictured below:
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Charles Scott, MD
Senior Geneticist
Co-Director, Skeletal Dysplasia Program
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Michael Bober, MD, PhD
Geneticist
Co-Director, Skeletal Dysplasia Program
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Linda Nicholson, M.S., M.C.
with Dr. Bober and Dr. Scott
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William Mackenzie, MD
Acting Chairman, Orthopedics
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