Genetic characteristics of microtia-associated syndromes in neonates.
10.7499/j.issn.1008-8830.2203008
- Author:
Jing MA
1
;
Wen-Hao ZHOU
Author Information
1. Department of Facial Plastic and Reconstructive Surgery, Eye Ear Nose and Throat Hospital of Fudan University, Shanghai 200031, China.
- Publication Type:Journal Article
- Keywords:
Genetics;
Microtia;
Neonate;
Syndrome
- MeSH:
China;
Congenital Microtia/genetics*;
Humans;
Infant, Newborn;
Phenotype;
Prevalence;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(6):614-619
- CountryChina
- Language:Chinese
-
Abstract:
Microtia is the second most common maxillofacial birth defect in neonates and has an prevalence rate of 3.06/10 000 in China, and 20%-60% of microtia cases is associated with a certain type of syndrome. This article elaborates on the clinical phenotypes and genetic characteristics of three microtia-associated syndromes (MASs) with high prevalence, high incidence rate of ear deformity, and definite genetic etiology, i.e., oculo-auriculo-vertebral spectrum, branchio-oto-renal spectrum disorder, and Treacher-Collins syndrome, and summarizes another three common MASs, so as to provide a reference for the genetic diagnosis of neonatal MAS.
