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Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients With Microtia and Congenital Heart Defect

open access: yesGenes, 2023
Microtia is a congenital malformation characterized by a small, abnormally shaped auricle (pinna) ranging in severity. Congenital heart defect (CHD) is one of the comorbid anomalies with microtia.
Nuo Si, Caiyun Zhu, Jiahang Ju
exaly   +2 more sources

Congenital Abnormalities Associated With Microtia: A 10-YEARS Retrospective Study

open access: yesInternational Journal of Pediatric Otorhinolaryngology, 2021
International audienceMicrotia is a congenital auricular malformation, often part of a syndromic form (35%-55% of cases). The accurate prevalence of associated malformations remains to be determined with regard to the heterogeneous results of the ...
Sophie ACHARD   +2 more
exaly   +2 more sources
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Microtia in Indonesia: Characteristics and Family History Analysis on the Presence of Other Congenital Anomalies in Patients With Microtia

Cleft Palate-Craniofacial Journal
Objective This study aims to explore the characteristics of microtia in Indonesia and examine whether family traits influence its severity, focusing on other congenital anomalies in patients categorized as either isolated or syndromic microtia.
Indri Lakhsmi Putri   +2 more
exaly   +3 more sources

Pathogenic Genes for Congenital Microtia: A Bioinformatics Analysis

Journal of Craniofacial Surgery, 2023
Objective: The purpose of this study is to accurately find the pathogenic genes of congenital microtia, so as to lay a theoretical foundation for genetic screening, diagnosis, and gene therapy of congenital microtia in the further stage.
Pengfei, Sun   +3 more
openaire   +2 more sources

Study on the Incidence of Congenital Genitourinary System Malformations in Congenital Microtia Patients

Journal of Craniofacial Surgery, 2023
Objective: Study the incidence of genitourinary malformations combined with microtia, find the regularity of the disease, and analyze the correlation between them. Methods: There is a total of 3143 microtia patients from January 2015 to December 2019 in Plastic Surgery Hospital.
Dejin, Gao   +3 more
openaire   +2 more sources

Microtia and Congenital Aural Atresia

Otolaryngologic Clinics of North America, 2007
Microtia and congenital aural atresia (CAA) are congenital anomalies that are so common that every otolaryngologist should be familiar with the initial evaluation and care of the patient. When one ear hears normally, speech and language development should be normal.
Peggy E, Kelley, Melissa A, Scholes
openaire   +2 more sources

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