Nail Patellar Syndrome (NPS)
DOI:
https://doi.org/10.59779/jiomnepal.122Keywords:
Onychoosteodysplasia, autosomal dominant, mucopolysaccharides, genetic counselingAbstract
The Nail Patellar Syndrome (NPS) is a genetic disorder primarily involving the bones, nails and kidneys. Inheritance is autosomal dominant with unknown pathogenesis. Diagnostic features are hypoplastic or absent nails, patella, iliac horns and elbow abnormalities. Multiple other bony deformities, eye strucure abnormalities and nephropathy are seen. A case of 3-year old female child with nail patellar syndrome is presented.
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Published
2024-07-22
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Case Reports
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Copyright (c) 2024 Journal of Institute of Medicine Nepal
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
Gami, F. (2024). Nail Patellar Syndrome (NPS). Journal of Institute of Medicine Nepal, 22(1 & 2). https://doi.org/10.59779/jiomnepal.122
