NAIL-PATELLA SYNDROME WITH NEPHROTIC SYNDROME AND DEAFNESS: A CASE REPORT

  • Muhammad Zaki The Sabzazar Hospital Lahore, Pakistan
Keywords: Nail patella syndrome, Gene LMX1B, Nephrotic syndrome, Deafness

Abstract

Nail patella syndrome (NPS) is a rare hereditary disorder, characterized by typical dermatological and musculoskeletal abnormalities. It is an autosomal dominant condition resulting from the mutation of LMX1b gene at chromosome 9q34. We herein report a case of NPS aged 18 years, having Nephrotic syndrome with atypical involvement of deafness. She had classical features of a syndrome like absent patella, deformed elbow, dysplastic nail of fingers and toes, and iliac horn.

Published
2018-12-03
Section
Case Report