Advances in genetic etiology research of congenital chest wall deformity
- VernacularTitle:先天性胸廓畸形的遗传病因学研究进展
- Author:
HE Xin
1
,
2
;
CHEN Nan
1
,
2
;
LIN Feng
3
Author Information
1. Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, 610041, P.R.China;
2. West China School of Medicine, Sichuan University, Chengdu, 610041, P.R.China
3. Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, 610041, P.R.China
- Publication Type:Journal Article
- Keywords:
Congenital chest deformities;
genetic etiology;
pectus excavatum;
pectus carinatum
- From:
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery
2020;27(01):101-105
- CountryChina
- Language:Chinese
-
Abstract:
Congenital chest deformity is caused by abnormal development of spine or ribs, resulting in sternal depression or protrusion. Pectus carinatum and pectus excavatum are the most common diseases in clinic, which can either be accompanied by other syndromes or exist alone. The genetic factors of congenital thoracic deformity can be related to single gene mutation, polygene mutation and chromosome aberration. Common clinical congenital thoracic deformity with syndromes, such as Marfan syndrome and Noonan syndrome, often have relatively fixed and clear pathogenic genes. The genetic pathogenesis of non-syndromic and independent congenital thoracic malformations is usually diverse, and treatments for syndromic and non-syndromic congenital thoracic deformity are different. Therefore, it is necessary for us to differentiate syndromic and non-syndromic congenital thoracic deformities in basic research, clinical diagnosis and treatment.
