A Case of Nail-patella Syndrome.
- Author:
Beom Joon KIM
1
;
Ho Joon YOON
;
Chong Hyun WON
;
Jong Hee LEE
;
Oh Sang KWON
Author Information
1. Department of Dermatology, Dongguk University Colleg of Medicine, Korea.
- Publication Type:Case Report
- Keywords:
Nail dystrophy;
Nail-patella syndrome
- MeSH:
Animals;
Dislocations;
Female;
Head;
Horns;
Humans;
Infant;
Nail-Patella Syndrome*;
Nails;
Patella;
Transcription Factors
- From:Korean Journal of Dermatology
2006;44(4):492-494
- CountryRepublic of Korea
- Language:Korean
-
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.
