Korean J Dermatol.
2006 Apr;44(4):492-494.
A Case of Nail-patella Syndrome
- Affiliations
-
- 1Department of Dermatology, Dongguk University Colleg of Medicine, Korea.
- 2Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea. oskwon@snu.ac.kr
Abstract
- Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, also known as iliac horns. It results from a heterogenous loss of function or mutations in the transcription factor (LMX1b). Herein, we report a rare case of nail-patella syndrome in an 18 month-old female.
