Pycnodysostosis: Clinicoradiographic report of a rare case

Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroo...

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Bibliographic Details
Main Authors: Mayur D Dhameliya (Author), Ajit D Dinkar (Author), Manisha Khorate (Author), Sapna S Raut Dessai (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2017-01-01T00:00:00Z.
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Summary:Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroosteolysis of the distal phalanges. This case report showed a 25-year-old female with features pathognomonic of pycnodysostosis. The emphasis is mainly on the early diagnosis as it has an important role in the general health of such patients and prevention of complications.
Item Description:0976-237X
0976-2361
10.4103/ccd.ccd_1105_16