Pyknodysostosis: A Rare Diagnosis

Sumaira Khalil; KIRAN MUSHTAQ TOOR; PARVEEN AKHTAR

Abstract:

Pyknodysostosis is a rare genetic sclerosing bone disorder caused by impaired osteoclast function resulting in decreased bone resorption. This results in typical phenotypic and radiological features of this disease. Major features of this disorder are recurrent fractures, short stature, acroosteolysis, persistence of fontanelles and separated cranial sutures. Diagnosis is based on clinical and radiological findings and confirmed by molecular analysis of CTSK gene mutation. We present here a case of 10 years old male child with short stature and recurrent fractures who was ultimately diagnosed as pyknodysostosis on the basis of clinical and radiological evidence. So highlighting such cases will help in early diagnosis of patients with these clinical presentations.

research from:

• Foundation University Medical College

Year:

2018

Type of Publication:

Article

Journal:

Pakistan Pediatric Journal

Volume:

42

Number:

4

Pages:

286-289

Month:

2018