Title: Rare Case of Pycnodysostosis: Case Report
Authors: Saini Thirupathi, Lalunaik Katravath
DOI: https://dx.doi.org/10.18535/jmscr/v6i8.99
Abstract
Introduction
It’s a rare disease of bone described under diastropic dwarfism. Inherited as autosomal recessive. Famous painter TOULOUSE LAUTREC had suffered from it. The term pycnodysastosis coined by Maroteaux and Lamy (1962)
Case Report
22 yr male patient resident of khammam referred to M.G.M Hospitals warangal in September 2016, with history of fall at home and fracture femur.
References
- Motyckova G, Fisher DE: Pycnodyso-stosis: Role and Regulation of Cathepsin K in Osteoclast Function and Human Disease. Curr Mol Med. 2002, 2: 407-421. 10.2174/1566524023362401.View Article PubMed Google Scholar
- Chavassieux P, Seeman E, Delmas PD: Insights into material and structural basis of bone fragility from diseases associated with fractures: how determinants of the biomechanical properties of bone are compromised by disease. Endocr Rev. 2007, 28: 151-164. 10.1210/er.2006-0029.View Article PubMed Google Scholar
- Dormans J, Flynn J: Rockwood and Wilkin's Fractures in Children. Edited by: Beaty JH Kasser JR. 2005, Lippincott Williams & Wilkins, 195-6Google Scholar
- Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K: Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab. 2004, 89: 1538-1547. 10.1210/jc.2003-031055.View Article PubMed Google Scholar
- Maroteaux P, Lamy M: Pyknodysostosis. Presse Med. 1962, 70: 999-1002. PubMed Google Scholar
- Wolpowitz A, Matisonn A: A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis. S Afr Med J. 1974, 48: 1011-1018. PubMed Google Scholar
- Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M: Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected.