Pycnodysostosis: A Rare disorder
Journal Title: Journal of Pakistan Orthopaedic Association - Year 2013, Vol 25, Issue 03
Abstract
Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentiallypathognomonic. Other features include persistence of fontanels, delayed closure of sutures, Wormian bones, absence of frontal sinuses, and obtusemandibular angle with relative mandibular prognathism.In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia. Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. This syndrome has been frequently reported in history.
Authors and Affiliations
RAJA ATA,ZAHID NOMAN,ASAD MUNIR
Keywords
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