Results 11 to 20 of about 2,486 (175)

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Khalid R, Fadl-Elmula I.
europepmc   +2 more sources

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

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

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders. [PDF]

Prenat Diagn
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Lam YH, Shi M, Dong Z, Choy KW, Leung TY, Cao Y.   +5 more
europepmc   +2 more sources

Management of Congenital Aural Atresia and Microtia

Korean Journal of Otorhinolaryngology-Head and Neck Surgery, 2023
Microtia is commonly associated with aural atresia, which will cause cosmetic problems as well as hearing impairment. The management of microtia and aural atresia should improve the aesthetic of the external ear and enhance functional hearing. The reconstruction of the auricle can be performed with autologous rib cartilage or a porous polyethylene ...
Gi-Sung Nam, Sung Il Cho
openaire   +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