Publication: “Pyknodysostosis” A Case Report
Date
2009
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 101 - 103
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Pyknodysostosis is a rare disorder of skeletal dysplasia that is inherited as an autosomal recessive genetic trait. Several mutations have been found in the gene encoding cathepsin K - a lysosomal cysteine protease and the gene situated at 1q21. A mutation in this gene leads to loss of enzyme for osteoclastic activities responsible for the metabolism of skeletal system leading to defective bone remodeling and resorption and various other skeletal abnormalities. Here we report a case of 12 year old female from mid-western hilly region of Nepal with Pyknodysostosis having fracture femur and other skeletal dysplasia.
The characteristic features of this syndrome are dwarfism, large open fontenelles, wide cranial sutures, small retrograde mandible, multiple fractures and osteosclerosis, dental abnormalities, short and broad hands and feet, blue sclera, multiple fractures and nail may be dysplastic.
Description
Karna K Sapkota
Lecturer, Department of Paediatrics, Nepalgunj Medical College, Kohalpur, Nepalgunj
Veena Gupta
Professor and Head of Department, Department of Paediatrics, Nepalgunj Medical College, Kohalpur, Nepalgunj
CP Shrivastav
Professor, Department of Paediatrics, Nepalgunj Medical College, Kohalpur, Nepalgunj
Keywords
Pyknodysostosis, dysplasia, short stature
Identifier
https://doi.org/10.3126/jnps.v29i2.2049