Results 21 to 30 of about 3,288 (169)

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   +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

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

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities

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   +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

Integrated microtia and aural atresia management

Frontiers in Surgery, 2022
ObjectivesTo present recommendations for the coordinated evaluation and management of the hearing and reconstructive needs of patients with microtia and aural atresia.MethodsA national working group of 9 experts on microtia and atresia evaluated a ...
Mai Thy Truong, Yi-Chun Carol Liu, Yi-Chun Carol Liu, Jocelyn Kohn, Sivakumar Chinnadurai, Sivakumar Chinnadurai, David A. Zopf, Melissa Tribble, Paul B. Tanner, Kathleen Sie, Kay W. Chang   +10 more
doaj   +1 more source

Demystifying Small Concha-type Microtia: Advancements in Classification and Surgical Approach

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. The accurate identification of microtia type is foundational to preoperative planning and intraoperative strategies for auricular reconstruction using an autologous costal cartilage framework.
Emily S. Chwa, BA, Peter J. Laub, MD, Akira Yamada, MD, PhD   +2 more
doaj   +1 more source

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

BMC Medical Genomics, 2019
Background Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities.
Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen   +8 more
doaj   +1 more source

Predicting the Risk of Microtia From Prenatal Factors: A Hospital-Based Case-Control Study

Frontiers in Pediatrics, 2022
BackgroundAlthough a wide range of risk factors for microtia were identified, the limitation of these studies, however, is that risk factors were not estimated in comparison with one another or from different domains.
Wei Chen, Manqing Sun, Yue Zhang, Qun Zhang, Xiaolin Xu   +4 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