[Genetic characteristics of microtia-associated syndromes in neonates].
新生儿常见小耳畸形相关综合征的遗传特征.
Genetics
Microtia
Neonate
Syndrome
Journal
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
ISSN: 1008-8830
Titre abrégé: Zhongguo Dang Dai Er Ke Za Zhi
Pays: China
ID NLM: 100909956
Informations de publication
Date de publication:
15 Jun 2022
15 Jun 2022
Historique:
entrez:
28
6
2022
pubmed:
29
6
2022
medline:
30
6
2022
Statut:
ppublish
Résumé
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. 小耳畸形是新生儿第二大颌面部出生缺陷，在我国的发病率为3.06/10 000，20%~60%的小耳畸形与某种类型综合征相关。该文重点论述发病率高、耳畸形发生率高、遗传学病因明确的3大小耳畸形相关综合征（microtia-associated syndromes，MAS），即眼-耳-脊椎畸形谱系、鳃-耳-肾谱系疾病及Treacher Collins综合征的临床表型及遗传学病因，并概述另外3种相对常见的MAS，旨在为新生儿MAS的遗传学诊断提供参考。.
Autres résumés
Type: Publisher
(chi)
小耳畸形是新生儿第二大颌面部出生缺陷，在我国的发病率为3.06/10 000，20%~60%的小耳畸形与某种类型综合征相关。该文重点论述发病率高、耳畸形发生率高、遗传学病因明确的3大小耳畸形相关综合征（microtia-associated syndromes，MAS），即眼-耳-脊椎畸形谱系、鳃-耳-肾谱系疾病及Treacher Collins综合征的临床表型及遗传学病因，并概述另外3种相对常见的MAS，旨在为新生儿MAS的遗传学诊断提供参考。.
Identifiants
pubmed: 35762425
pii: 1008-8830(2022)06-0614-06
doi: 10.7499/j.issn.1008-8830.2203008
pmc: PMC9250400
pii:
doi:
Types de publication
Journal Article
Langues
chi
Sous-ensembles de citation
IM
Pagination
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