Genetic characteristics of microtia-associated syndromes in neonates

MA Jing, ZHOU Wen-Hao

Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (6) : 614-619.

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Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (6) : 614-619. DOI: 10.7499/j.issn.1008-8830.2203008
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Genetic characteristics of microtia-associated syndromes in neonates

  • MA Jing, ZHOU Wen-Hao
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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

Microtia / Syndrome / Genetics / Neonate

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MA Jing, ZHOU Wen-Hao. Genetic characteristics of microtia-associated syndromes in neonates[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(6): 614-619 https://doi.org/10.7499/j.issn.1008-8830.2203008

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