Pycnodysostosis , PKND (skrót)

The precise frequency of pycnodysostosis has not been determined.

It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis.

Cathepsin K became a much sought-after drug target in osteoporosis after the etiology of pycnodysostosis was discovered.

In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder.

Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature.

At that point, they will try to persuade Toulouse-Lautrec's living relatives to be tested to see whether they are silent carriers of the pycnodysostosis trait.

Mutations in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by lack of functional cathepsin K expression.

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, and their heavy impact upon affected individuals.

Pycnodysostosis PKND PYCD None Pyknodysostosis is a rare disorder that is inherited as an autosomal recessive genetic trait.

Modern physicians attribute this to an unknown genetic disorder, possibly pycnodysostosis (also sometimes known as Toulouse-Lautrec Syndrome), or a variant disorder along the lines of osteopetrosis, achondroplasia, or osteogenesis imperfecta.

In 1962, two French doctors first described a type of inherited skeletal abnormality they called pycnodysostosis, and they assured that their announcement would win wide attention by arguing that this was the malady of France's most beloved poster boy.

In the accompanying essay, however, Julia B. Frey of the University of Colorado in Boulder, author of a biography of the artist published last year, insists that his medical history "contains enough elements uncharacteristic of pycnodysostosis to raise considerable doubts about the original 'diagnosis.' "

To which the researchers grumble, Dr. Frey may be a great biographer and historian, but she's no M.D. Pycnodysostosis is a recessive disorder, meaning an infant must inherit two mutant copies of the gene, one from the mother and one from the father, to suffer the syndrome.