Publication: Nail Patellar Syndrome (NPS)
| creativeworkseries.issn | ISSN (Print) : 1993-2979 | ISSN (Online) : 1993-2987 | |
| dc.contributor.author | Gami, FC | |
| dc.date.accessioned | 2026-07-21T06:18:27Z | |
| dc.date.available | 2026-07-21T06:18:27Z | |
| dc.date.issued | 2000 | |
| dc.description.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 | |
| dc.identifier | https://doi.org/10.59779/jiomnepal.122 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/6991 | |
| dc.language.iso | en_US | |
| dc.publisher | Institute of Medicine | |
| dc.subject | Onychoosteodysplasia | |
| dc.subject | autosomal dominant | |
| dc.subject | mucopolysaccharides | |
| dc.subject | genetic counseling | |
| dc.title | Nail Patellar Syndrome (NPS) | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| relation.isJournalIssueOfPublication | ab39575b-f6cb-4b4c-9886-2f1a5bd91bc3 | |
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