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
Pycnodysostosis is a genetic (inherited) disease of the bone.
pattern of inheritance follows the classic rules of genetics
Pycnodysostosis consistently causes short stature. The height
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
be unusually short; and delays the normal closure of the
(sutures) of the skull bones in infancy, so that the "soft
(the fontanel) on top of the head remains widely open.
Pycnodysostosis causes brittle bones which easily break
bones in the legs and feet tend to fracture. The jaw and collar
(clavicles) are also particularly prone to fractures.
The precise frequency of pycnodysostosis has never been
Pycnodysostosis can be classified in the large group of genetic
that are individually uncommon, but collectively important
because of the
sum of their numbers, their heavy impact upon affected
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
and Lamy in 1962. They described the disorder in a report
pycnodysostose." (They were not the only discoverers of
Andren and colleagues independently described the condition in
Maroteaux and Lamy put "pyknos," from the Greek
together with the compound word "dysostosis" meaning
bone formation. The name "pycnodysostosis" was
convey the abnormally dense bone that is a hallmark of the
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
spelling with a 'c'. No matter which way it is spelt, the name
and is utilized worldwide today to designate this disease.