Literature DB >> 11202325

Pyknodysostosis--a report of two cases with a brief review of the literature.

R J Bathi1, V N Masur.   

Abstract

Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.

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Year:  2000        PMID: 11202325

Source DB:  PubMed          Journal:  Int J Oral Maxillofac Surg        ISSN: 0901-5027            Impact factor:   2.789


  15 in total

Review 1.  Clinical and radiographic maxillofacial features of pycnodysostosis.

Authors:  Nilton Alves; Mario Cantín
Journal:  Int J Clin Exp Med       Date:  2014-03-15

2.  Dental and facial bone abnormalities in pyknodysostosis: CT findings.

Authors:  K W Fleming; G Barest; O Sakai
Journal:  AJNR Am J Neuroradiol       Date:  2007-01       Impact factor: 3.825

3.  Osteomyelitis in pycnodysostosis - report of 2 clinical cases.

Authors:  Rohit S; Praveen Reddy B; Sreedevi B; Sandeep Prakash
Journal:  J Clin Diagn Res       Date:  2015-01-01

Review 4.  Optimising antiresorptive therapies in postmenopausal women: why do we need to give due consideration to the degree of suppression?

Authors:  Morten A Karsdal; Per Qvist; Claus Christiansen; László B Tankó
Journal:  Drugs       Date:  2006       Impact factor: 9.546

5.  A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.

Authors:  Alberto Berenguer; António Pedro Freitas; Gomes Ferreira; José Luis Nunes
Journal:  BMJ Case Rep       Date:  2012-11-21

Review 6.  Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.

Authors:  Yang Xue; Tao Cai; Songtao Shi; Weiguang Wang; Yanli Zhang; Tianqiu Mao; Xiaohong Duan
Journal:  Orphanet J Rare Dis       Date:  2011-05-10       Impact factor: 4.123

7.  Distribution of Cathepsin K in Late Stage of Tooth Germ Development and Its Function in Degrading Enamel Matrix Proteins in Mouse.

Authors:  Tao Jiang; Fen Liu; Wei-Guang Wang; Xin Jiang; Xuan Wen; Kai-Jin Hu; Yang Xue
Journal:  PLoS One       Date:  2017-01-17       Impact factor: 3.240

8.  Pycnodysostosis: an anaesthetic approach to this rare genetic disorder.

Authors:  Rajeev Puri; Arpita Saxena; Awak Mittal; Zia Arshad; Yogita Dwivedi; Trilok Chand; Apurva Mittal; Archna Agrawal; Jay Prakash; Sathiyanarayanan Pilendran
Journal:  Case Rep Anesthesiol       Date:  2013-03-14

9.  Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report.

Authors:  Hasan Kamak; Gulen Kamak; Ibrahim Yavuz
Journal:  Eur J Dent       Date:  2012-10

10.  Pycnodysostosis with Special Emphasis on Dentofacial Characteristics.

Authors:  Aisha Khoja; Mubassar Fida; Attiya Shaikh
Journal:  Case Rep Dent       Date:  2015-11-16
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