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Year : 2015  |  Volume : 27  |  Issue : 2  |  Page : 318-321

Pyknodysostosis: A rare case report

1 Department of Oral Medicine and Radiology, Maharana Pratap College of Dentistry and Research Centre, Gwalior, Madhya Pradesh, India
2 Department of Oral Medicine and Radiology, KD Dental College and Hospital, Mathura, Uttar Pradesh, India

Correspondence Address:
Deepti Bhardwaj
Jagdish Kripa, Besides Harinirmal Cinema Hall, Nai Sadak Lashkar, Gwalior - 474 001, Madhya Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-1363.170175

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Pyknodysostosis is a rare autosomal recessive disorder characterized by the postnatal 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 sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. Here, we report a case of pyknodysostosis found to be having the classical features during intraoral examination and general physical examination.

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