A First-Case Report of Pycnodysostosis in an Omani Boy.
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ABSTRACT:
SUBMITTER: Al-Araimi M
PROVIDER: S-EPMC8847048 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Publications
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi Musallam M Al-Hosni Aliya A Maimani Ashwaq Al AA
Journal of pediatric genetics 20200804 1
Here we reported 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 patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing. These findings established the diagnosis of pycnodysostosis (PKND). To the best of the authors' knowledge, this case is the first case to be repo ...[more]
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