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Pycnodysostosis (cont.)
Medical Reviewer:
William C. Shiel Jr., MD, FACP, FACR
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- What is pycnodysostosis?
- What is basis for the name of this disease?
- What are the characteristics of pycnodysostosis?
- How is pycnodysostosis inherited?
- What are the risks of pycnodysostosis?
- What is the molecular story with pycnodysostosis?
- Could there be a connection between pycnodysostosis and osteoporosis?
- What is the treatment for pycnodysostosis?
- Pycnodysostosis At A Glance
Pycnodysostosis At A Glance
- Pycnodysostosis is an inherited disorder of the bone.
- Pycnodysostosis causes short stature.
- Pycnodysostosis causes abnormally dense brittle bones.
- Pycnodysostosis causes the "soft spot" of a
baby's skull to
stay widely open.
- Pycnodysostosis is due to a defect in an enzyme: cathepsin
K.
- Growth hormone treatment may increase growth in pycnodysostosis.
Last Editorial Review: 7/9/2009
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