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.
Article
ي Zh
| WPRIM
| ID: wpr-939637
المكتبة المسؤولة:
WPRO
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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Phenotype
/
Syndrome
/
China
/
Prevalence
/
Congenital Microtia
نوع الدراسة:
Prevalence_studies
المحددات:
Humans
/
Newborn
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
Zh
مجلة:
Chinese Journal of Contemporary Pediatrics
السنة:
2022
نوع:
Article