AI Article Synopsis
- - Nail-patella syndrome (NPS) is a rare genetic disorder characterized by skeletal deformities and various other health issues, such as renal failure and heart problems.
- - A 17-year-old male patient exhibited multiple skeletal abnormalities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy, leading to a clinical diagnosis of NPS supported by imaging and biopsy findings.
- - The association of dilated cardiomyopathy with NPS is not well-documented, highlighting the importance of a thorough evaluation due to the disorder's diverse systemic effects.
Article Abstract
Nail-patella syndrome (NPS) is a rare genetic disorder with multiple skeletal deformities and a variety of extra-skeletal involvements. We present a 17-year-old male with a clinical tetrad of skeletal abnormalities, multiple bony deformities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy. A clinical diagnosis of NPS was made, supported by radiographic findings, and corroborated by compatible renal biopsy results. There are very few published reports describing the association of dilated cardiomyopathy with this syndrome. A high index of suspicion is needed to make this diagnosis, given myriads of multi-systemic manifestations.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725733 | PMC |
| http://dx.doi.org/10.7759/cureus.48969 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!