Nail Patellar Syndrome (NPS)

Authors

F.C. Gami

DOI:

https://doi.org/10.59779/jiomnepal.122

Keywords:

Onychoosteodysplasia, autosomal dominant, mucopolysaccharides, genetic counseling

Abstract

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

Issue

Vol. 22 No. 1 & 2 (2000): Journal of Institute of Medicine

Section

Case Reports

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Copyright (c) 2024 Journal of Institute of Medicine Nepal

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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