A Case Report of Nail-Patella Syndrome
10.12376/j.issn.2097-0501.2023.04.018
- VernacularTitle:指甲-髌骨综合征一例
- Author:
Dan CHEN
1
;
Liying SUN
1
;
Wenyao ZHONG
1
;
Wen TIAN
1
Author Information
1. Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China.
- Publication Type:Journal Article
- Keywords:
nail-patella syndrome;
LMX1B gene;
arthrogryposis
- From:
JOURNAL OF RARE DISEASES
2023;2(4):611-615
- CountryChina
- Language:Chinese
-
Abstract:
Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail hypoplasia in both hands, patellar dislocation of both knees, iliac angle protrusion of both sides, and scoliosis. Whole exome sequencing suggests the presence of a LMX1B NM_002316.4:c.706G > C(p.Ala236Pro) mutation. NPS is an autosomal dominant disease associated with gene mutation of LMX1B, which can be diagnosed by combining the patient′s clinical manifestations and genetic results. The treatment now only targets on symptoms, relieving the localized severe lesion but not cure right now.
