نتایج جستجو برای: pyknodysostosis

تعداد نتایج: 21  

2017
G Subramanya Gandhi V Vijayanarasimhan Lionel John S Kailash E Sathish Balaji

INTRODUCTION Pyknodysostosis is congenital osteosclerotic skeletal dysplasia of a rare entity. It is an autosomal recessive disease which presents with short stature and generalized osteosclerosis of skeleton as result of decreased bone turnover. Here, the authors report a case of pyknodysostosis who presented to our emergency room with a pathological fracture in the shaft of the femur for whic...

1982
K.N. Srinivas T. Murali P.S. Shivakumar R.S. Pandey B.Y.T. Arya

A rare case report of association of affective psychosis with pyknodysostosis is discussed.

Journal: :JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH 2015

Journal: :Journal of Nepal Paediatric Society 2009

Journal: :Journal of Indian Academy of Oral Medicine and Radiology 2015

2013
Rajeev Puri Arpita Saxena Awak Mittal Zia Arshad Yogita Dwivedi Trilok Chand Apurva Mittal Archna Agrawal Jay Prakash Sathiyanarayanan Pilendran

Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation...

F GHazanfari pour

pyknodysostosis is a rare bone disease characterzed with short stature,wide fontaneles,small chin,hyperdensity of bones,erosion of tufts of the disatl phalanges,and narrowing of the mandibular angle. pyknodysostosis is inheritted as an autosomal recessive disease and may be seen in both sexes at any age.the patients have normal life span.short stature and bone fractures are their major problems...

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