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.
Pycnodysostosis is perhaps best known as the diagnosis given
retrospectively to the late 19th century French artist Henri de
Toulouse-Lautrec (portrayed by Jose Ferrer in the 1952 film
"Moulin
Rouge").
Pycnodysostosis is a genetic (inherited) disease of the bone.
Its
pattern of inheritance follows the classic rules of genetics
(see below).
Pycnodysostosis consistently causes short stature. The height
of adult
males with the disease is less than 150 cm (59 inches, or 4
feet 1 inch).
Adult females with pycnodysostosis are even shorter.
Pycnodysostosis causes the bones to be abnormally dense
(osteosclerosis); the last bones of the fingers (the distal
phalanges) to
be unusually short; and delays the normal closure of the
connections
(sutures) of the skull bones in infancy, so that the "soft
spot"
(the fontanel) on top of the head remains widely open.
Pycnodysostosis causes brittle bones which easily break
(fracture). The
bones in the legs and feet tend to fracture. The jaw and collar
bone
(clavicles) are also particularly prone to fractures.
The precise frequency of pycnodysostosis has never been
determined.
Pycnodysostosis can be classified in the large group of genetic
diseases
that are individually uncommon, but collectively important
because of the
sum of their numbers, their heavy impact upon affected
individuals, and
the equally heavy burden they place upon their families.
What is basis for the name of this disease?
The name for this disease was coined by the French physicians
Maroteaux
and Lamy in 1962. They described the disorder in a report
entitled "La
pycnodysostose." (They were not the only discoverers of
the disease.
Andren and colleagues independently described the condition in
1962.)
Maroteaux and Lamy put "pyknos," from the Greek
meaning "dense"
together with the compound word "dysostosis" meaning
abnormal
bone formation. The name "pycnodysostosis" was
designed to
convey the abnormally dense bone that is a hallmark of the
disease.
Although the original Maroteaux and Lamy spelling was with a
'c', it has
been written variably with a 'c' or a 'k'. Here we use the
original
spelling with a 'c'. No matter which way it is spelt, the name
has stuck
and is utilized worldwide today to designate this disease.
Stress occurs when forces from the outside world impinge on the individual. Stress is a normal part of life. However, over-stress, can be harmful. There is now speculation, as well as some evidence, that points to the abnormal stress responses as being involved in causing various diseases or conditions.
Scoliosis causes an abnormal curvature of the spine. When the cause of scoliosis is unknown the disorder is described based on the age when the scoliosis develops (infantile, juvenile, or adolescent idiopathic scoliosis). In functional scoliosis, curvature develops due to a problem somewhere else in the body. With neuromuscular scoliosis, there is a problem when the bones of the spine are formed. Treatment typically involves observation, bracing, and surgery and is dependent upon the severity of the curvature.
Fractures occur when bone cannot withstand the outside forces applied to the bone. Fractures can be open or closed. Types of fractures include: greenstick, spiral, comminuted, transverse, compound, or vertebral compression. Common fractures include: stress fracture, compression fracture, rib fracture, and skull fracture. Treatment depends upon the type of fracture.
Stress may be considered as any physical, chemical, or emotional factor that causes bodily or mental unrest and that may be a factor in disease causation. An important goal for those under stress is the management of stress in our lives. Elimination of stress is unrealistic, since stress is a part of normal life. We can however, learn to manage stress through techniques such as exercise, relaxation, meditation, time management, and support systems so that we have control over our stress and its effects on our physical and mental health.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Regular physical activity can reduce the risk of disease. Regular exercise can also reduce the symptoms of stress and anxiety. There are fitness programs that fit any age or lifestyle.
Learn more about what cavities like, their symptoms, treatment and prevention. See how tooth decay, plaque and bacteria contribute to the creation of cavities and how regular brushing and flossing can help.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Stress is simply a fact of nature -- forces from the inside or outside world affecting the individual. The individual responds to stress in ways that affect the individual as well as their environment. Because of the overabundance of stress in our modern lives, we usually think of stress as a negative experience, but from a biological point of view, stress can be a neutral, negative, or positive experience.
In general, stress is related to both external and internal factors. External factors include the physical environment, including your job, your relationships with others, your home, and all the situations, challenges, difficulties, and expectations you're confronted with on a daily basis. Internal factors determine your body's ability to respond to, and deal with, the external stress-inducing factors. Internal factors which influence your ability to handle stress include your nutritional status, overall health and fitness levels, emotional w...
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