Results 1 to 10 of about 242,527 (163)

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Global Medical Genetics, 2023
Background Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment.
Piero Pavone, Xena Giada Pappalardo, Claudia Parano, Enrico Parano, Antonio Corsello, Martino Ruggieri, Giovanni Cacciaguerra, Raffaele Falsaperla   +7 more
doaj   +2 more sources

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities [PDF]

Frontiers in Medicine, 2023
ObjectivePrenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia.MethodsThe ultrasonographic features ...
Jing Qiu, Jing Qiu, Jing Qiu, Yanhui Ru, Yanhui Ru, Yanhui Ru, Yang Gao, Jie Shen   +7 more
doaj   +2 more sources

Development of an interdisciplinary microtia‐atresia care model: A single‐center 20‐year experience

Laryngoscope Investigative Otolaryngology, 2022
Objectives Microtia and aural atresia are congenital ear anomalies with a wide‐ranging spectrum of phenotypes and varied functional and psychosocial consequences for patients. This study seeks to analyze the management of microtia‐atresia patients at our
Krupa R. Patel, Liliya Benchetrit, Evette A. Ronner, Jessica Occhiogrosso, Tessa Hadlock, David Shaye, Alicia M. Quesnel, Michael S. Cohen   +7 more
doaj   +1 more source

Characterization of Distinct Chondrogenic Cell Populations of Patients Suffering from Microtia Using Single-Cell Micro-Raman Spectroscopy

Biomedicines, 2023
Microtia is a congenital condition of abnormal development of the outer ear. Tissue engineering of the ear is an alternative treatment option for microtia patients.
Dominika Zielinska, Hesham K. Yosef, Tilo Zollitsch, Johann Kern, Yvonne Jakob, David Gvaramia, Nicole Rotter, Luca Pontiggia, Ueli Moehrlen, Thomas Biedermann, Agnes S. Klar   +10 more
doaj   +1 more source

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

Frontiers in Genetics, 2020
ObjectiveWe used data from twins and their families to probe the genetic factors contributing to microtia-atresia, in particular, early post-twinning variations that potentially account for the discordant phenotypes of monozygotic twin pairs.MethodsSix ...
Xinmiao Fan, Lu Ping, Hao Sun, Yushan Chen, Pu Wang, Tao Liu, Rui Jiang, Xuegong Zhang, Xiaowei Chen   +8 more
doaj   +1 more source

Occurrence of Different External Ear Deformities in Monozygotic Twins: Report of 2 Cases

Plastic and Reconstructive Surgery, Global Open, 2014
Summary: Microtia is a spectrum of congenital deformities, which varies from barely discernable to anotia. Twinning is a well-known risk factor for congenital defects including external ear deformities.
Jin-Tian Hu, MD, Tun Liu, MD, Jin Qian, MD, Yong-Biao Zhang, PhD, Xu Zhou, MD, Qing-Guo Zhang, MD   +5 more
doaj   +1 more source

De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

Molecular Genetics & Genomic Medicine, 2022
Background Congenital microtia is a common craniofacial malformation resulting from both environmental and genetic factors. Recurrent chromosomal imbalances were observed in patients with microtia.
Nuo Si, Zeya Zhang, Xin Huang, Chanchen Wang, Peipei Guo, Bo Pan, Haiyue Jiang   +6 more
doaj   +1 more source

Artificial intelligence for assessing the severity of microtia via deep convolutional neural networks

Frontiers in Surgery, 2022
BackgroundMicrotia is a congenital abnormality varying from slightly structural abnormalities to the complete absence of the external ear. However, there is no gold standard for assessing the severity of microtia.ObjectivesThe purpose of this study was ...
Dawei Wang, Xue Chen, Yiping Wu, Hongbo Tang, Pei Deng   +4 more
doaj   +1 more source

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Molecular Genetics & Genomic Medicine, 2021
Background Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ...
Meirong Yang, Xiaosheng Lu, Ye Zhang, Changchen Wang, Zhen Cai, Zhengyong Li, Bo Pan, Haiyue Jiang   +7 more
doaj   +1 more source

Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report

Journal of Oral Research and Review, 2022
Hypertelorism-microtia-clefting (HMC) syndrome is a very rare autosomal recessive disorder. HMC syndrome is malformation of orofacial region characterized by hypertelorism, microtia, and cleft lip and palate.
Supreet Shirolkar, Rajib Sikdar, Khooshbu Gayen, Anisha Bag, Santanu Mukhopadhyay, Subir Sarkar   +5 more
doaj   +1 more source