Genetic characteristics of microtia-associated syndromes in neonates / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 614-619, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-939637
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Síndrome
/
China
/
Prevalência
/
Microtia Congênita
Tipo de estudo:
Estudo de prevalência
Limite:
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2022
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS