A First-Case Report of Pycnodysostosis in an Omani Boy
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DOI: 10.1055/s-0040-1714364
Abstract: Here we report on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the… read more here.
Keywords: omani boy; pycnodysostosis; case; first case ... See more keywords
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
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DOI: 10.1097/md.0000000000006367
Abstract: Rationale: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine… read more here.
Keywords: femur fracture; pycnodysostosis; fracture; pycnodysostosis atypical ... See more keywords
Clinical and radiographic features of pycnodysostosis: A case report
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DOI: 10.4317/jced.54105
Abstract: Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease. This study reports… read more here.
Keywords: pycnodysostosis case; clinical radiographic; pycnodysostosis; case ... See more keywords