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
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Syndrome
/
Chine
/
Prévalence
/
Microtie congénitale
Type d'étude:
Étude de prévalence
Limites du sujet:
Humains
/
Nouveau-né
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2022
Type:
Article
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