Progress in the Research of the Spinal Deformity Related to Marfan Syndrome
10.12376/j.issn.2097-0501.2023.04.003
- VernacularTitle:马凡综合征相关脊柱畸形的研究进展
- Author:
Guanfeng LIN
1
,
2
;
Nan WU
1
,
2
,
3
;
Shengru WANG
1
,
2
;
Yang YANG
1
,
2
;
Jianguo ZHANG
1
,
2
,
3
Author Information
1. Department of Orthopaedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.
3. Peking Union Medical College, Beijing 100730, China.State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Publication Type:Journal Article
- Keywords:
Marfan syndrome;
spinal deformity;
skeletal abnormalities;
correction surgery
- From:
JOURNAL OF RARE DISEASES
2023;2(4):476-482
- CountryChina
- Language:Chinese
-
Abstract:
Marfan syndrome(MFS) is an autosomal dominant systemic connective tissue disease. The incidence rate of MFS is about 2-3 per 10 000. Main cause of MFS is FBN1 gene mutation. About 2/3 of MFS patients have spinal deformities, showing symptoms of scoliosis, thoracic lordosis and lumbar kyphosis, severe spondylolisthesis, dural dilatation and pedicle dystrophy. MFS scoliosis develops with age and may continue even after bone maturation. Conservative treatments such as brace are usually ineffective. Surgical treatment of main curve > 40°-45 °is recommended, but due to the special anatomical structure of MFS patients, such surgical complications as dural leakage, failure of internal fixation and revision surgery are not uncommon.
