title: Case Report - Pyknodysostosis.
abstract: Pyknodysostosis is an extremely rare lysosomal storage disease of the bone. Osteosclerosis of the skeleton is due to a decrease of the bone turnover. A plethora of clinical and radiological findings are observed. Patients are short statured with acroosteolysis and dense bones and develop multiple spontaneous bone fractures. A female patient presented with frontal bossing, small and thick fingers and toes. The classical clinical and radiological findings confirmed it as pyknodysostosis.
authors.affiliation: Associate Professor, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences , Bangalore, India .
authors.forename: S C
authors.initials: SC
authors.lastname: Sanjay
authors.affiliation: Former Professor & HOD, Department of Paediatrics, Kempegowda Institute of Medical Sciences , Bangalore, India .
authors.forename: Keshava
authors.initials: K
authors.lastname: Murthy
authors.affiliation: Professor, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences , Bangalore, India .
authors.forename: Anil Kumar
authors.initials: AK
authors.lastname: Shukla
authors.affiliation: Professor & HOD, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences , Bangalore, India .
authors.forename: N
authors.initials: N
authors.lastname: Krishnappa
keywords: Acroosteolysis; Fontanel; Sandal gap deformity