Publication: Nail Patellar Syndrome (NPS)
Date
2000
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN (Print) : 1993-2979 | ISSN (Online) : 1993-2987
Volume Title
Publisher
Institute of Medicine
Abstract
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.
Keywords: Onychoosteodysplasia, autosomal dominant, mucopolysaccharides, genetic counseling
Description
Keywords
Onychoosteodysplasia, autosomal dominant, mucopolysaccharides, genetic counseling
Identifier
https://doi.org/10.59779/jiomnepal.122