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. Key words: Pyknodysostosis, dysplasia, short stature doi: 10.3126/jnps.v29i2.2049 J. Nepal Paediatr. Soc. Vol 29, No. 2, pp.101-103
Highlights
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[1]
Skeletal examination revealed a fracture of the left shaft of femur and a deformed right thigh
X-ray of long bones showed a generalized increase in bone density, fracture of left shaft of femur and deformed right femur due to an old healed fracture (Fig: 1)
Summary
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[1]. A12-year-old girl, born to consanguineous marriage, was referred to the orthopedic department for fracture of femur and to the department of paediatrics by orthopedic surgeon with the symptoms and signs of short stature, wide open sutures and fontenelles characteristic facies and history of recurrent fractures following trivial injuries. She has one younger brother who does not have any problems and is normal but her younger sister who is 7 years of age has similar features as stated by her mother.
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