Case Report — Pyknodysostosis
نویسندگان
چکیده
منابع مشابه
pyknodysostosis: a case report
pyknodysostosis is a rare bone disease that has autosomal dominant trait. it is characterized by short stature, diffuse osteosclerosis, acro-osteolysis, finger, and nail abnormalities. other features include open fontanelles and sutures, relative proptosis and obtuse mandibular gonial angle with relative mandibular prognathism. intraoral features such as dental abnormalities also have been repo...
متن کاملFracture Management in Pyknodysostosis - A Rare Case Report
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...
متن کاملPyknodysostosis: report of a rare case with review of literature
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 essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuse...
متن کاملA report of two cases of pyknodysostosis in two children
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...
متن کاملDental and facial bone abnormalities in pyknodysostosis: CT findings.
Pyknodysostosis is an autosomal-recessive disorder of osteoclast dysfunction causing osteosclerosis, with associated maxillofacial anomalies. Multidetector CT with multiplanar and 3D reconstruction illustrated the pathologic findings in this case. Abnormalities included multiple retained deciduous teeth, unerupted teeth with associated follicles, an irregularly expanded alveolus and body of the...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2015
ISSN: 2249-782X
DOI: 10.7860/jcdr/2015/11656.5894